Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
R-numbers: R54 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cerebellar ataxia, MONDO:0000437, Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505 |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes optic atrophy spectrum disorder |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes optic atrophy spectrum disorder |
Green in Optic neuropathyR-numbers: R41 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Optic atrophy, MONDO:0003608, Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505, Pontocerebellar hypoplasia, type 1E, MIM# 619303, MONDO:0030260 |
R-numbers: R63 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neuropathy, hereditary motor and sensory, type VIB, 616505 |