Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Component of the following Super Panels:
Signed-off version 2.23 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cerebellar Ataxia, Spinocerebellar ataxia, autosomal recessive 8 |
Green in Congenital muscular dystrophyComponent of the following Super Panels:
R-numbers: R79 Signed-off version 2.2 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998, complex phenotypic spectrum ranging from Emery-Dreifuss muscular dystrophy to ataxia (SCA8) |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE 612998, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 610743 |
Green in Hereditary ataxia - adult onsetR-numbers: R54 Signed-off version 2.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cerebellar Ataxia, Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive spinocerebellar ataxia type 8 |
Green in Limb girdle muscular dystrophyComponent of the following Super Panels:
R-numbers: R82 Signed-off version 2.4 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998 |