Congenital Disorders of Glycosylation
Gene: ALG11

ALG11 (ALG11, alpha-1,2-mannosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000253710
EnsemblGeneIds (GRCh37): ENSG00000253710
OMIM: 613666, Gene2Phenotype
ALG11 is in 9 panels

1 review

Sarah Donoghue (Royal Children's Hospital)

Green List (high evidence)

Usually transferrin isoforms abnormal, however normal patterns have been reported in this condition.
Abnormalities in fibroblasts accumulation of a N2M3 and N2M4 (N=N-acetylglucosamine, M=Mannose) LLO glycans
Hypoglycosylation of GP130
Created: 26 Aug 2020, 11:23 a.m. | Last Modified: 26 Aug 2020, 11:23 a.m.

Panel Version: 0.151

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental disability; Epilepsy; Dysmorphic features; Microcephaly; Hypotonia; Hypertonia, Hyperreflexia; Sensorineural deafness; Eye/Visual Problems; Feeding problems

Publications

PMID: 30676690

Variants in this GENE are reported as part of current diagnostic practice

Created: 26 Aug 2020, 11:23 a.m.
Last Modified: 26 Aug 2020, 11:23 a.m.
Panel version: 0.151

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Congenital disorder of glycosylation, type Ip, MIM# 613661

OMIM

613666

Clinvar variants

Variants in ALG11

Penetrance

None

Publications

30676690

Panels with this gene