Structural eye disease
Gene: MFN2
association with optic atrophyCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, type 2A2; 609260
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). association with optic atrophyCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, type 2A2, 609260
Phenotypes for gene: MFN2 were changed from Charcot-Marie-Tooth disease, type 2A2, 609260; Eye Disorders to Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM:617087; Hereditary motor and sensory neuropathy VIA, OMIM:601152
Mode of inheritance for gene: MFN2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Source NHS GMS was added to MFN2. Mode of inheritance for gene MFN2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Charcot-Marie-Tooth disease, type 2A2, 609260 for gene: MFN2
gene: MFN2 was added gene: MFN2 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: MFN2 was set to Phenotypes for gene: MFN2 were set to Eye Disorders