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Fetal anomalies

Gene: GALNT2

Amber List (moderate evidence)

GALNT2 (polypeptide N-acetylgalactosaminyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000143641
EnsemblGeneIds (GRCh37): ENSG00000143641
OMIM: 602274, Gene2Phenotype
GALNT2 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

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.

Microcephaly and poor growth but age of onset of these features is uncertain.

Sources: Literature
Created: 21 Apr 2020, 3:40 a.m. | Last Modified: 8 Feb 2022, 9:24 p.m.
Panel Version: 0.3217

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIt, MIM# 618885

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type IIt OMIM:618885
OMIM
602274
Clinvar variants
Variants in GALNT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: galnt2 has been classified as Amber List (Moderate Evidence).

24 Oct 2021, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GALNT2 was added gene: GALNT2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp 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 OMIM:618885