Congenital Disorders of Glycosylation

Gene: ALG14

Green List (high evidence)

Cerebral atrophy may be progressive

Created: 26 Aug 2020, 11:49 a.m. | Last Modified: 26 Aug 2020, 11:49 a.m.

Panel Version: 0.151

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability; epilepsy; dysmorphic features; myasthenia; hypotonia; cerebral atrophy; contractures; congenital myasthenia

Publications

• PMID: 30221345, PMID: 28733338, PMID: 23404334

Green List (high evidence)

Five families reported altogether. Although OMIM has assigned 3 disease entities, it is uncertain whether these are distinct, or represent a spectrum of severity for a CDG.

Created: 6 Oct 2020, 9:26 p.m. | Last Modified: 6 Oct 2020, 9:26 p.m.

Panel Version: 0.169

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

Created: 23 Nov 2019, 3:47 a.m. | Last Modified: 22 Jul 2020, 8:27 a.m.

Panel Version: 0.138

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

Variants in this GENE are reported as part of current diagnostic practice