Likely inborn error of metabolism

Gene: GALNT2

Comment 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

Green List (high evidence)

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: Literature

Created: 1 May 2020, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation

Publications

• 32293671

Variants in this GENE are reported as part of current diagnostic practice