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Multiple Tumours

Gene: GALNT12

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

1 review

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Unsure, as there has been a publication that did not find an association with familial colorectal cancer type X.
Created: 18 Apr 2017, 10:26 a.m.
Comment on publications: PMID: 24115450 - "GALNT12 is not a major contributor of familial colorectal cancer type X".
Created: 18 Apr 2017, 10:21 a.m.
Comment on publications: PMID: 22461326 "Although this study does not provide irrefutable evidence that GALNT12 variants are highly penetrant alleles that predispose to CRC in the majority of unexplained hereditary CRC families, it does provide additional evidence to support an important role of these variants in a proportion of this considerable high-risk group."
Created: 18 Apr 2017, 10:18 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
{Colorectal cancer, susceptibility to, 1} 608812

Publications

Created: 18 Apr 2017, 10 a.m.

Panel version: 1.19

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • UKGTN
Phenotypes
  • {Colorectal cancer, susceptibility to, 1} 608812
OMIM
610290
Clinvar variants
Variants in GALNT12
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Apr 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

18 Apr 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GALNT12 were set to 19617566; 26448050; 24115450; 24038392; 22473939; 22461326; 20551049; 15557789

18 Apr 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GALNT12 were set to 19617566; 26448050; 24115450; 24038392; 22473939; 22461326; 20551049; 15557789

18 Apr 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GALNT12 were set to 19617566; 26448050; 24115450; 24038392; 22473939; 22461326; 20551049

18 Apr 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GALNT12 were set to 19617566; 26448050; 24115450; 24038392; 22473939; 22461326

18 Apr 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GALNT12 were set to 19617566; 26448050; 24115450; 24038392; 22473939;22461326

18 Apr 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GALNT12 were set to 19617566; 26448050; 24115450; 24038392;22473939

18 Apr 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GALNT12 were set to 19617566; 26448050; 24115450;24038392

18 Apr 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GALNT12 were set to 19617566;26448050;24115450

18 Apr 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GALNT12 was created by ellenmcdonagh

18 Apr 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GALNT12 was added to Multiple Tumourspanel. Sources: UKGTN