Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes OROTIC ACIDURIA TYPE 1 258900 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes OROTIC ACIDURIA TYPE 1 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes OROTIC ACIDURIA TYPE 1 (ORAC1) |
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 Intellectual disability, Orotic aciduria, Orotic aciduria (Disorders of pyrimidine metabolism) |
Green in Rare anaemiaR-numbers: R92 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes 258900 Orotic aciduria with megaloblastic anaemia |