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Structural eye disease v1.119 | MFN2 | Arina Puzriakova 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.118 | MFN2 | Arina Puzriakova Mode of inheritance for gene: MFN2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.76 | MFN2 | Nicola Ragge reviewed gene: MFN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 2A2, 609260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.47 | MFN2 | Ivone Leong edited their review of gene: MFN2: Changed phenotypes: Charcot-Marie-Tooth disease, type 2A2, 609260 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.38 | MFN2 | Ivone Leong reviewed gene: MFN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 7, 610951, MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT, 616170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.15 | MFN2 |
Ivone Leong 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 |
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Structural eye disease v0.2 | MFN2 |
Ellen McDonagh 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 |