Genomics England

OPA1

OPA1, mitochondrial dynamin like GTPase

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 4.40	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Optic atrophy 1, OMIM:165500, Optic atrophy plus syndrome, OMIM:125250, Behr syndrome, OMIM:210000
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 4.26	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Optic atrophy plus syndrome, OMIM:125250, Behr syndrome, OMIM:210000
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 3.66	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Optic atrophy plus syndrome, OMIM:125250, Behr syndrome, OMIM:210000
Green in Likely inborn error of metabolism - targeted testing not possible Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 4.78	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Optic atrophy 1, OMIM:165500, Optic atrophy plus syndrome, OMIM:125250, Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896, Behr syndrome, OMIM:210000
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 4.114	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Optic atrophy 1, OMIM:165500, Optic atrophy plus syndrome, OMIM:125250, Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896, Behr syndrome, OMIM:210000
Green in Mitochondrial DNA maintenance disorder R-numbers: R352 Signed-off version 3.0	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Optic atrophy 1, OMIM:165500, Optic atrophy plus syndrome, OMIM:125250, Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896, Behr syndrome, OMIM:210000
Green in Monogenic hearing loss Component of the following Super Panels: - Paediatric disorders R-numbers: R67 Signed-off version 4.23	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Optic atrophy 1, OMIM:165500, Optic atrophy plus syndrome, OMIM:125250
Green in Optic neuropathy R-numbers: R41 Signed-off version 4.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Optic atrophy 1, OMIM:165500, Optic atrophy plus syndrome, OMIM:125250, Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896, Behr syndrome, OMIM:210000
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.69	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Optic atrophy 1, OMIM:165500, Optic atrophy plus syndrome, OMIM:125250, Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896, Behr syndrome, OMIM:210000