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Inborn errors of metabolism

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

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Associated with colorectal cancer susceptibility
Created: 23 Feb 2017, 5:13 p.m.

Mode of inheritance
Unknown

Phenotypes
{Colorectal cancer, susceptibility to, 1} 608812; (GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies))

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Red
Phenotypes
  • (GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies))
  • GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)
  • {Colorectal cancer, susceptibility to, 1} 608812
OMIM
610290
Clinvar variants
Variants in GALNT12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to GALNT12. Source London North GLH was added to GALNT12.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

17 Dec 2018, Gel status: 1

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: GALNT12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

16 Dec 2018, Gel status: 1

Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene GALNT12 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Unknown Added phenotypes (GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)); GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies); {Colorectal cancer, susceptibility to, 1} 608812 for gene: GALNT12

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: GALNT12 was added gene: GALNT12 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: GALNT12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GALNT12 were set to 27604308 Phenotypes for gene: GALNT12 were set to GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies); {Colorectal cancer, susceptibility to, 1} 608812