Mackenzie's Mission_Reproductive Carrier Screening

Gene: DPAGT1

Green List (high evidence)

In addition to Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM 614750 is a milder allelic disorder, variants in this gene are associated with a 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.

Created: 19 Dec 2020, 2:53 a.m. | Last Modified: 19 Dec 2020, 2:53 a.m.

Panel Version: 0.50

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ij, MIM# 608093; DP; Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750AGT1-CDG MONDO:0011964

Publications

• 12872255
• 22492991
• 22304930
• 31153949
• 30653653
• 30117111