Early onset or syndromic epilepsy

Gene: GALNT2

Green List (high evidence)

Khetarpel et al, 2016 - 2 unrelated individuals hom for diff variants in GALNT2 - can't see any phenotypic information - functional work in this paper.
Zilmer et al, 2020, 7 affected individuals from 4 families - epilepsy seen in 6/7 individuals in all 4 families, appears in first years of life.

Created: 29 Jan 2021, 2:51 p.m. | Last Modified: 29 Jan 2021, 2:51 p.m.

Panel Version: 2.281

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 32293671
• 27508872

Green List (high evidence)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 3 Mar 2022, 5:34 p.m. | Last Modified: 3 Mar 2022, 5:34 p.m.

Panel Version: 2.491

Comment on list classification:
For-review tag has been added to highlight that there is enough evidence for this gene to be rated GREEN at the next major review, depending on the policy of inclusion of metabolic genes on this panel.

Created: 9 Jul 2020, 1:53 p.m. | Last Modified: 2 Feb 2021, 10:37 a.m.

Panel Version: 2.287

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

• 27508872
• 32293671