Congenital Myasthenia

Gene: ALG14

I don't know

5 individuals from unrelated families described in the literature: one with myasthenic syndrome, no report of ID; second with predominantly ID phenotype; and three more with a neurodegenerative phenotype. ALG14 is part of the UDP-GlcNAc transferase, which catalyzes a key step in endoplasmic reticulum N-linked glycosylation. The three OMIM disorders may represent a spectrum of severity for CDG.

Created: 23 Sep 2022, 7:31 a.m. | Last Modified: 23 Sep 2022, 7:31 a.m.

Panel Version: 1.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031; Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036; Disorder of N-glycosylation

Publications

• 30221345
• 23404334
• 28733338

Green List (high evidence)

two papers, total of six unrelated families

Created: 12 Feb 2020, 2:30 a.m. | Last Modified: 12 Feb 2020, 2:30 a.m.

Panel Version: 0.0

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Myasthenia; myopathy; neurodegeneration

Publications

• 23404334
• 28733338