Inherited white matter disordersGene: GALNT2
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: 9 Jul 2020, 1:51 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Congenital disorder of glycosylation, type IIt 618885
Tag for-review was removed from gene: GALNT2.
Gene: galnt2 has been classified as Green List (High Evidence).
gene: GALNT2 was added gene: GALNT2 was added to Inherited white matter disorders. 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