Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
Green in ArthrogryposisR-numbers: R83 Signed-off version 3.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Pontocerebellar hypoplasia type 4 225753 |
Component of the following Super Panels:
Signed-off version 2.23 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Pontocerebellar Hypoplasia type 2A, Pontocerebellar hypoplasia 2A (#277470) and 4 (#225753), Pontocerebellar hypoplasia type 2A, 277470, Pontocerebellar Hypoplasia type 4, Pontocerebellar hypoplasia type 4, 225753, Pontocerebellar Hypoplasia, Pontocerebellar Hypoplasia type 5 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 316970 |
Green in Fetal anomaliesR-numbers: R21 Signed-off version 1.92 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4, Pontocerebellar hypoplasia type 2A, 277470, Pontocerebellar hypoplasia type 4, 225753 |
Green in Genetic epilepsy syndromesR-numbers: R59 Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Pontocerebellar hypoplasia type 4, 225753, Pontocerebellar hypoplasia type 2A, 277470, ?Pontocerebellar hypoplasia type 5, 610204 |
Green in Hereditary ataxia - adult onsetR-numbers: R54 Signed-off version 2.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Pontocerebellar hypoplasia 5, 610204, Pontocerebellar hypoplasia 4, 225753, Pontocerebellar hypoplasia 2A, 277470, Pontocerebellar hypoplasia type 4, 225753, Pontocerebellar hypoplasia type 2A, 277470 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 3.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 |
Component of the following Super Panels:
Signed-off version 1.34 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ?Pontocerebellar hypoplasia type 5 610204, Pontocerebellar hypoplasia type 2A 277470, Pontocerebellar hypoplasia type 4 225753 |