Congenital disorders of glycosylation
Gene: ALG9Comment when marking as ready: Associated with phenotype in OMIM and as a probable Developmental Disorder Gene / G2P. At least 2 variants reported, supportive in vitro evidence and segregation provided in PMID 15148656Created: 15 Dec 2016, 11:43 a.m.
Comment on mode of inheritance: MOI from DecipherCreated: 15 Dec 2016, 11:28 a.m.
Comment on phenotypes: Also associated with Gillessen-Kaesbach-Nishimura syndrome 263210Created: 15 Dec 2016, 11:27 a.m.
Promoted to V1 19th December 2016
This gene has been classified as Green List (High Evidence).
Mode of inheritance for ALG9 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for ALG9 were set to ALG9-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Il 608776; Mannosyltransferase 7-9 deficiency (Disorders of protein N-glycosylation)
Publications for ALG9 were set to 27604308; 15148656; 25966638
ALG9 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
ALG9 was added to Congenital disorders of glycosylationpanel. Source: Literature
ALG9 was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
ALG9 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
ALG9 was created by sleigh