Entity rating | Entity | Mode of inheritance | Mode of pathogenicity | Tags |
---|---|---|---|---|
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | Q3_21_MOI | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Other | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | 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 | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | STR | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | STR |
Green | STR | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | STR |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | Q3_22_MOI, Q3_22_NHS_review | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | 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 | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | Q4_21_MOI | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | STR | BIALLELIC, autosomal or pseudoautosomal | N/A | STR |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | missense | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | Q3_22_rating, Q3_22_expert_review | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | nucleotide-repeat-expansion, Q4_22_demote_red | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | nucleotide-repeat-expansion | |
Green | STR | BIALLELIC, autosomal or pseudoautosomal | N/A | STR |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | watchlist_moi | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | 15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name | |
Green | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Other | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MITOCHONDRIAL | N/A | gene-checked | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | 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 | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | Q2_21_rating | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | 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 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | N/A | Q3_21_MOI | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | Q3_22_rating, Q3_22_expert_review | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | Q3_22_MOI | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | Q2_21_rating, Q2_21_expert_review | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |