Early onset or syndromic epilepsy
Gene: GALNT2
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
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: LiteratureCreated: 9 Jul 2020, 1:51 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type IIt 618885
Publications
Tag for-review was removed from gene: GALNT2.
Source Expert Review Green was added to GALNT2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: GALNT2 were changed from Congenital disorder of glycosylation, type IIt 618885 to Congenital disorder of glycosylation, type IIt OMIM:618885
Gene: galnt2 has been classified as Amber List (Moderate Evidence).
gene: GALNT2 was added gene: GALNT2 was added to Genetic epilepsy syndromes. 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