Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Component of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Autosomal recessive spinocerebellar ataxia 12, 614322 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 614322, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 616211 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Epileptic encephalopathy, early infantile, 28, 616211 |
R-numbers: R54 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Autosomal recessive spinocerebellar ataxia 12, 6143232, Autosomal recessive spinocerebellar ataxia 12, 614322, Early infantile epileptic encephalopathy 28, 616211 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 |