Hereditary ataxia with onset in adulthood
Gene: OPA1
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Multiple reports in the lit for all phenotypes - ataxia only a part of Behr and Optic atrophy plus. Loss of function variants (as AD cause) only associated with non-syndrome OACreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Optic atrophy 1, 165500, Optic atrophy plus syndrome, 125250, Behr syndrome, 210000
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: OPA1 were changed from Optic atrophy 1, 165500; Behr syndrome, 210000; Optic atrophy plus syndrome, 125250 to Optic atrophy plus syndrome, OMIM:125250; Behr syndrome, OMIM:210000
Mode of pathogenicity for gene: OPA1 was changed from to Other
Mode of inheritance for gene: OPA1 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Gene: opa1 has been classified as Green List (High Evidence).
Added phenotypes Optic atrophy 1, 165500; Behr syndrome, 210000; Optic atrophy plus syndrome, 125250 for gene: OPA1
Source NHS GMS was added to OPA1.
gene: OPA1 was added gene: OPA1 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: OPA1 was set to