Congenital disorders of glycosylation
Gene: GALNT2Comment on list classification: The rating of this gene should be reviewed at the date of next GMS panel update - there is sufficient evidence to rate this gene Green.Created: 9 Oct 2020, 8:51 a.m. | Last Modified: 9 Oct 2020, 8:51 a.m.
Panel Version: 2.15
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 11:11 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.
Panel Version: 2.80
Comment on list classification: 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).Created: 23 Jun 2020, 11:03 a.m. | Last Modified: 9 Jul 2020, 1:48 p.m.
Panel Version: 2.14
Seven individuals from four families reported with bi-allelic LOF variants and global developmental delay, intellectual disability with language deficit, autistic features, behavioural abnormalities, epilepsy, chronic insomnia, white matter changes on brain MRI, dysmorphic features, decreased stature, and decreased high density lipoprotein cholesterol levels. Rodent (mouse and rat) models of GALNT2-CDG recapitulated much of the human phenotype, including poor growth and neurodevelopmental abnormalities. Suggest adding to ID and epilepsy panels.
Sources: LiteratureCreated: 1 May 2020, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation
Publications
Variants in this GENE are reported as part of current diagnostic practice
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)
Gene: galnt2 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: GALNT2.
Gene: galnt2 has been classified as Green List (High Evidence).
Gene: galnt2 has been classified as Green List (High Evidence).
Publications for gene: GALNT2 were set to 32293671
Phenotypes for gene: GALNT2 were changed from Congenital disorder of glycosylation to Congenital disorder of glycosylation, type IIt 618885
gene: GALNT2 was added gene: GALNT2 was added to Congenital disorders of glycosylation. Sources: Literature Mode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALNT2 were set to 32293671 Phenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation Review for gene: GALNT2 was set to GREEN gene: GALNT2 was marked as current diagnostic