Inherited white matter disorders
Gene: GALNT2

GALNT2 (polypeptide N-acetylgalactosaminyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000143641
EnsemblGeneIds (GRCh37): ENSG00000143641
OMIM: 602274, Gene2Phenotype
GALNT2 is in 6 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

Created: 9 Jul 2020, 1:51 p.m.

Panel version: 1.77

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Literature

Phenotypes

Congenital disorder of glycosylation, type IIt 618885

OMIM

602274

Clinvar variants

Variants in GALNT2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

19 Oct 2020, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: GALNT2.

9 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: galnt2 has been classified as Green List (High Evidence).

9 Jul 2020, Gel status: 1

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