Congenital Disorders of Glycosylation
Gene: ALG1

ALG1 (ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000033011
EnsemblGeneIds (GRCh37): ENSG00000033011
OMIM: 605907, Gene2Phenotype
ALG1 is in 11 panels

1 review

Sarah Donoghue (Royal Children's Hospital)

Green List (high evidence)

Neuroimaging abnormalities cerebellar or cerebral atrophy
Usually abnormal transferrin isoelectric focussing
Protein-linked xeno-tetrasaccharide biomarker, NeuAc-Gal-GlcNAc2
Often missense variants
Created: 26 Aug 2020, 11:14 a.m. | Last Modified: 26 Aug 2020, 11:14 a.m.

Panel Version: 0.151

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental delay; Intellectual disability; Hypotonia; Seizure/Epilepsy; Visual Involvement; Microcephaly; Abnormal Brain Imaging; Facial Dysmorphism; Haematological; Gastrointestinal; Skeletal Abnormalities, Hypoalbuminaemia; Recurrent infections; Liver dysfunction; Cardiac Abnormalities, Renal Abnormalities

Publications

PMID: 26931382

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

Created: 26 Aug 2020, 11:14 a.m.
Last Modified: 26 Aug 2020, 11:14 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 Ik 608540

OMIM

605907

Clinvar variants

Variants in ALG1

Penetrance

None

Publications

26931382

Panels with this gene