Likely inborn error of metabolism - targeted testing not possible
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 Serviceapproval.Created: 14 Mar 2022, 2:05 p.m. | Last Modified: 14 Mar 2022, 2:05 p.m.
Panel Version: 2.229
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 Q2_21_rating 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)
Tag for-review was removed from gene: GALNT2. Tag Q2_21_rating tag was added to gene: GALNT2.
gene: GALNT2 was added gene: GALNT2 was added to Inborn errors of metabolism. Sources: Expert Review Amber,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