Congenital disorders of glycosylation
Gene: ALG11EnsemblGeneIds (GRCh38): ENSG00000253710
EnsemblGeneIds (GRCh37): ENSG00000253710
OMIM: 613666, Gene2Phenotype
ALG11 is in 8 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 6 variants reported.Created: 15 Dec 2016, 9:53 a.m.
Daniel Ungar (University of York, Department of Biology)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Literature
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Phenotypes
-
- Congenital disorder of glycosylation, type Ip 613661
- ALG11-CDG (Disorders of protein N-glycosylation)
- OMIM
- 613666
- Clinvar variants
- Variants in ALG11
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 19th December 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for ALG11 were set to 27604308; 22213132
Added New Source
Sarah Leigh (Genomics England Curator)ALG11 was added to Congenital disorders of glycosylationpanel. Source: UKGTN
Added New Source
Sarah Leigh (Genomics England Curator)ALG11 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Sarah Leigh (Genomics England Curator)ALG11 was added to Congenital disorders of glycosylationpanel. Source: Literature
Added New Source
Sarah Leigh (Genomics England Curator)ALG11 was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
Created
Sarah Leigh (Genomics England Curator)ALG11 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)ALG11 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory