Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in ArthrogryposisR-numbers: R83 Signed-off version 7.7 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Glycine encephalopathy with normal serum glycine, OMIM:617301 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.15 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Glycine Encephalopathy with Arthrogryposis |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.195 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Glycine encephalopathy with normal serum glycine, OMIM:617301, Arthrogryposis, MONDO:0008779 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.51 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Glycine encephalopathy with normal serum glycine, OMIM:617301 |