Entity rating | Entity | Mode of inheritance | Mode of pathogenicity | Tags |
---|---|---|---|---|
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Distal myopathies | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | Other | new-gene-name |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myaesthenic syndrome | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myaesthenic syndrome | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myaesthenic syndrome | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Distal myopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric motor neuronopathies | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Other | nucleotide-repeat-expansion, currently-ngs-unreportable, Q2_21_rating, Q2_21_MOI |
Green | Congenital myopathy STR | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | STR |
Green | Distal myopathies STR | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | STR |
Green | Paediatric motor neuronopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Distal myopathies | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Paediatric motor neuronopathies | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Congenital myopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | Q3_21_MOI |
Green | Limb girdle muscular dystrophy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Congenital myopathy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myaesthenic syndrome | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric motor neuronopathies | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myaesthenic syndrome | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Other | N/A |
Green | Congenital myaesthenic syndrome | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Other | deletions |
Green | Congenital myaesthenic syndrome | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Other | N/A |
Green | Congenital myaesthenic syndrome | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myaesthenic syndrome | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Distal myopathies | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Other | nucleotide-repeat-expansion, currently-ngs-unreportable, Q4_21_MOI, Q4_21_rating |
Green | Congenital muscular dystrophy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myaesthenic syndrome | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myaesthenic syndrome | BIALLELIC, autosomal or pseudoautosomal | N/A | treatable |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | Q1_22_MOI |
Green | Limb girdle muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Distal myopathies | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | Q4_21_MOI |
Green | Limb girdle muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Other | N/A |
Green | Distal myopathies | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | gene-therapy-trial, Skewed X-inactivation |
Green | Congenital muscular dystrophy | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | gene-therapy-trial, Skewed X-inactivation |
Green | Limb girdle muscular dystrophy | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | gene-therapy-trial, Skewed X-inactivation |
Green | Congenital muscular dystrophy STR | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | STR |
Green | Congenital myopathy STR | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | STR |
Green | Distal myopathies | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Limb girdle muscular dystrophy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Congenital myopathy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | missense |
Green | Distal myopathies | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myaesthenic syndrome | BIALLELIC, autosomal or pseudoautosomal | N/A | treatable |
Green | Limb girdle muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myaesthenic syndrome | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric motor neuronopathies | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Distal myopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric motor neuronopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Limb girdle muscular dystrophy | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Distal myopathies | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | Q3_22_rating, Q3_22_expert_review |
Green | Limb girdle muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | structural-variant |
Green | Distal myopathies | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Limb girdle muscular dystrophy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myaesthenic syndrome | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myaesthenic syndrome | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Distal myopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Distal myopathies | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Distal myopathies | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Paediatric motor neuronopathies | BIALLELIC, autosomal or pseudoautosomal | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric motor neuronopathies 15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Paediatric motor neuronopathies 2p15p16.1 region (includes BCL11A) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Congenital myopathy 2p15p16.1 region (includes BCL11A) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Congenital myopathy 17q21.3 recurrent region (includes KANSL1) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Paediatric motor neuronopathies 17q21.3 recurrent region (includes KANSL1) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Congenital myopathy 4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Paediatric motor neuronopathies 4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Paediatric motor neuronopathies 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | non-coding-known-pathogenic, for-review, to_be_confirmed_NHSE |
Green | Limb girdle muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | missense |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Limb girdle muscular dystrophy | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Distal myopathies | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myaesthenic syndrome | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Distal myopathies | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | Q3_22_MOI |
Green | Limb girdle muscular dystrophy | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | Q3_22_MOI |
Green | Congenital myaesthenic syndrome | BIALLELIC, autosomal or pseudoautosomal | N/A | deletions |
Green | Congenital myopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Limb girdle muscular dystrophy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | Q4_22_MOI |
Green | Congenital myopathy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | Q4_22_MOI |
Green | Distal myopathies | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Congenital myopathy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | Q2_21_rating, Q2_21_phenotype, Q2_21_expert_review |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | Q3_21_rating, Q3_21_expert_review, Q3_21_phenotype |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myaesthenic syndrome | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Distal myopathies | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Limb girdle muscular dystrophy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Distal myopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Congenital myopathy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | missense |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | Q4_21_rating, Q4_21_phenotype, Q2_22_expert_review |
Green | Congenital myopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myaesthenic syndrome | BIALLELIC, autosomal or pseudoautosomal | N/A | monogenic-polygenic |
Green | Limb girdle muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myaesthenic syndrome | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | treatable, pharmacogenetics |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Congenital myaesthenic syndrome | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myaesthenic syndrome | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myaesthenic syndrome | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Paediatric motor neuronopathies | BIALLELIC, autosomal or pseudoautosomal | Loss-of-function variants DO NOT cause this phenotype | treatable |
Green | Paediatric motor neuronopathies | BIALLELIC, autosomal or pseudoautosomal | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Congenital myaesthenic syndrome | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric motor neuronopathies | BIALLELIC, autosomal or pseudoautosomal | Loss-of-function variants DO NOT cause this phenotype | cnv, gene-therapy-trial |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric motor neuronopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Distal myopathies | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Congenital myopathy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | missense |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | Q3_22_MOI, Q3_22_NHS_review |
Green | Congenital myaesthenic syndrome | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | Q3_21_MOI |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Distal myopathies | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Congenital myopathy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Limb girdle muscular dystrophy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Limb girdle muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Congenital myopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric motor neuronopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric motor neuronopathies | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | Q2_21_rating, Q2_21_expert_review |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Distal myopathies | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Other | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric motor neuronopathies | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Congenital myaesthenic syndrome | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Distal myopathies | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Limb girdle muscular dystrophy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Congenital myopathy | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Limb girdle muscular dystrophy | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Paediatric motor neuronopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |