Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
Component of the following Super Panels:
Signed-off version 4.40 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Brown-Vialetto-Van Laere syndrome 2, MIM# 614707, MONDO:0013867, Cerebellar ataxia, MONDO:0000437 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Brown-Vialetto-Van Laere syndrome 2 |
R-numbers: R54 Signed-off version 4.26 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Bwon-Vialetto-Van Laere syndrome 2, 614707 |
R-numbers: R78 Signed-off version 3.66 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Brown-Vialetto-Van Laere syndrome 2, MIM# 614707, MONDO:0013867, Hereditary sensory and autonomic neuropathy, MONDO:0015364 |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Brown-Vialetto-Van Laere syndrome 2 614707 |
Green in Monogenic hearing lossComponent of the following Super Panels:
R-numbers: R67 Signed-off version 4.23 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Brown-Vialetto-Van Laere syndrome 2, OMIM:614707, MONDO:0013867, Sensorineural hearing loss disorder, MONDO:0020678 |
Green in Optic neuropathyR-numbers: R41 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Brown-Vialetto-Van Laere syndrome 2, MIM# 614707, MONDO:0013867, Optic atrophy, MONDO:0003608 |
Green in Paediatric motor neuronopathiesComponent of the following Super Panels:
Signed-off version 3.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Brown-Vialetto-Van Laere syndrome 2, MIM# 614707, MONDO:0013867, Hereditary sensory and autonomic neuropathy, MONDO:0015364 |