Prepair 1000+

Gene: DPAGT1

Green List (high evidence)

From Mendeliome; 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 disorder. More than 5 unrelated families reported with this presentation. Congenital myasthenic syndrome-13 (CMS13) is an autosomal recessive neuromuscular disorder characterized by onset of proximal muscle weakness in the first decade. See PMID 22742743, 16870884.

Created: 8 Jan 2025, 6:05 a.m. | Last Modified: 8 Jan 2025, 6:05 a.m.

Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964; Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM 614750

Publications

• 12872255
• 22304930
• 22742743
• 16870884