Arina Puzriakova Added comment: Comment on list classification: Only a single individual reported to date with prenatal hydrops and so will maintain the current Red rating on this panel. However, ALG1 is already Green on the GMS Fetal anomalies panel so cases should still be picked up via that route.
Arina Puzriakova Mode of inheritance for gene: ALG1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Zornitza Stark reviewed gene: ALG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31420886; Phenotypes: Congenital disorder of glycosylation, type Ik, MIM#608540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal