Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Component of the following Super Panels:
Signed-off version 2.23 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Posterior Column Ataxia with Retinitis Pigmentosa, Ataxia, posterior column, with retinitis pigmentosa, |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA 609033 |
Green in Hereditary ataxia - adult onsetR-numbers: R54 Signed-off version 2.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Posterior Column Ataxia with Retinitis Pigmentosa, Posterior column ataxia with retinitis pigmentosa, 609033, Ataxia, posterior column, with retinitis pigmentosa, |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 3.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA |
Green in Retinal disordersR-numbers: R32, R33, R34, R35 Signed-off version 2.195 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Eye Disorders, Posterior Column Ataxia with Retinitis Pigmentosa, Ataxia, posterior column, with retinitis pigmentosa, 609033, Retinitis pigmentosa |