Congenital disorders of glycosylation
Gene: C1GALT1C1

C1GALT1C1 (C1GALT1 specific chaperone 1)
EnsemblGeneIds (GRCh38): ENSG00000171155
EnsemblGeneIds (GRCh37): ENSG00000171155
OMIM: 300611, Gene2Phenotype
C1GALT1C1 is in 4 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Somatic variants associated with phenotype in OMIM, but not in G2P. See reviewers comments also
Created: 19 Dec 2016, 1:26 p.m.

Created: 19 Dec 2016, 1:26 p.m.

Panel version: 0.119

Daniel Ungar (University of York, Department of Biology)

Red List (low evidence)

SNPs in this gene are observed in IgA nephropathy patients, but studies report no significant correlation between mutations and the genetic susceptibility to the disease.
Created: 14 Dec 2016, 12:22 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Publications

Created: 14 Dec 2016, 12:22 p.m.

Panel version: 0.18

Details

Mode of Inheritance

Other - please specify in evaluation comments

Sources

Expert Review Red
UKGTN
Radboud University Medical Center, Nijmegen
Literature

Phenotypes

Tn polyagglutination syndrome, somatic 300622
COSMC-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)

OMIM

300611

Clinvar variants

Variants in C1GALT1C1

Penetrance

Complete

Publications

Panels with this gene