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Intellectual disability

Gene: GALNT2

Amber List (moderate evidence)

GALNT2 (polypeptide N-acetylgalactosaminyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000143641
EnsemblGeneIds (GRCh37): ENSG00000143641
OMIM: 602274, Gene2Phenotype
GALNT2 is in 4 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 9 Jul 2020, 1:54 p.m. | Last Modified: 9 Jul 2020, 1:54 p.m.
Panel Version: 3.160
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 5 variants reported in at least 5 unrelated cases, together with mouse and rat models (PMID 27508872;32293671).
Sources: Literature
Created: 9 Jul 2020, 1:51 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIt 618885

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type IIt 618885
Tags
for-review
OMIM
602274
Clinvar variants
Variants in GALNT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: galnt2 has been classified as Amber List (Moderate Evidence).

9 Jul 2020, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: GALNT2 was added gene: GALNT2 was added to Intellectual disability. Sources: Literature for-review tags were added to gene: GALNT2. Mode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALNT2 were set to 27508872; 32293671 Phenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation, type IIt 618885 Review for gene: GALNT2 was set to GREEN