Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY 610992, NEU-LAXOVA SYNDROME 256520 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neu-Laxova syndrome 2, OMIM:616038, Neu-Laxova syndrome 2, MONDO:0014466 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ?Phosphoserine aminotransferase deficiency 610992, Neu-Laxova syndrome 2 616038 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neu-Laxova syndrome 2 616038 |