1. Panels
  2. Congenital disorders of glycosylation
  3. GALNT12
STRs in panel
Prev Next
Regions in panel
Prev Next

Congenital disorders of glycosylation

Gene: GALNT12

Red List (low evidence)
GALNT12 (polypeptide N-acetylgalactosaminyltransferase 12)
EnsemblGeneIds (GRCh38): ENSG00000119514
EnsemblGeneIds (GRCh37): ENSG00000119514
OMIM: 610290, Gene2Phenotype
GALNT12 is in 3 panels

1 review

Daniel Ungar (University of York, Department of Biology)

Red List (low evidence)

No reported human mutations with a congenital defect. Molecular function is consistent with a potential for mutations in CDG to be found in the future.
Created: 14 Dec 2016, 2:50 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 14 Dec 2016, 2:50 p.m.

Panel version: 0.20

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • UKGTN
  • Literature
Phenotypes
  • {Colorectal cancer, susceptibility to, 1} 608812
  • GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)
OMIM
610290
Clinvar variants
Variants in GALNT12
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 19th December 2016

1 Dec 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

GALNT12 was added to Congenital disorders of glycosylationpanel. Source: UKGTN

1 Dec 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

GALNT12 was added to Congenital disorders of glycosylationpanel. Sources: Literature

1 Dec 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

GALNT12 was created by sleigh