Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
R-numbers: R57 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Band-like calcification with simplified gyration and polymicrogyria, 251290 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Pseudo-TORCH syndrome 1 251290 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Band-like calcification with simplified gyration and polymicrogyria 251290 |
Component of the following Super Panels:
R-numbers: R29 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Pseudo-TORCH syndrome 1, 251290 (includes profound developmental delay), Band-like calcification with simplified gyration and polymicrogyria |
Component of the following Super Panels:
Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Band-like calcification with simplified gyration and polymicrogyria 251290 |
Component of the following Super Panels:
Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Severe developmental delay with microcephaly, Band-like calcification with simplified gyration and polymicrogyria, Band-like calcification with simplified gyration and polymicrogyria, 251290 |