Congenital Disorders of Glycosylation
Gene: DPAGT1
Type I CDG. More than 20 unrelated families reported. Most affected individuals have a very severe disease course, where common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. Additional features that may be observed include apnoea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties.
Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM 614750 is a milder allelic disorderCreated: 19 Dec 2020, 2:41 a.m. | Last Modified: 19 Dec 2020, 2:42 a.m.
Panel Version: 0.259
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964
Publications
Gene: dpagt1 has been classified as Green List (High Evidence).
Phenotypes for gene: DPAGT1 were changed from to Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964
Publications for gene: DPAGT1 were set to
Mode of inheritance for gene: DPAGT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: DPAGT1 was added gene: DPAGT1 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DPAGT1 was set to Unknown