Congenital disorders of glycosylation
Gene: ALG9

ALG9 (ALG9, alpha-1,2-mannosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000086848
EnsemblGeneIds (GRCh37): ENSG00000086848
OMIM: 606941, Gene2Phenotype
ALG9 is in 13 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment 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 15148656
Created: 15 Dec 2016, 11:43 a.m.

Comment on mode of inheritance: MOI from Decipher
Created: 15 Dec 2016, 11:28 a.m.

Comment on phenotypes: Also associated with Gillessen-Kaesbach-Nishimura syndrome 263210
Created: 15 Dec 2016, 11:27 a.m.

Created: 15 Dec 2016, 11:27 a.m.

Panel version: 0.36

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
skeletal dysplasia

Publications

Created: 9 Dec 2016, 3:55 p.m.

Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
Literature
Illumina TruGenome Clinical Sequencing Services
Emory Genetics Laboratory

Phenotypes

ALG9-CDG (Disorders of protein N-glycosylation)
Congenital disorder of glycosylation, type Il 608776
Mannosyltransferase 7-9 deficiency (Disorders of protein N-glycosylation)

OMIM

606941

Clinvar variants

Variants in ALG9

Penetrance

Complete

Publications

Panels with this gene