Panel | Mode of inheritance | Details |
---|---|---|
7 panels | ||
R-numbers: R54 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260 |
R-numbers: R78 Signed-off version 3.24 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes 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 |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes 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 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 4.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes 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 |
R-numbers: R352 Signed-off version 3.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes 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 |
Green in Optic neuropathyR-numbers: R41 Signed-off version 4.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes 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 |
R-numbers: R63 Signed-off version 3.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes 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 |