Congenital Disorders of Glycosylation
Gene: ALG14
Cerebral atrophy may be progressiveCreated: 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
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 glycosylationCreated: 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
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: ALG14 were changed from Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031; Disorder of N-glycosylation to 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
Phenotypes for gene: ALG14 were changed from Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual disability; Disorder of N-glycosylation to Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031; Disorder of N-glycosylation
Phenotypes for gene: ALG14 were changed from Myasthenic syndrome, congenital, 15, without tubular aggregates 616227 to Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual disability; Disorder of N-glycosylation
Gene: alg14 has been classified as Green List (High Evidence).
Phenotypes for gene: ALG14 were changed from to Myasthenic syndrome, congenital, 15, without tubular aggregates 616227
Publications for gene: ALG14 were set to
Mode of inheritance for gene: ALG14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: ALG14 was added gene: ALG14 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ALG14 was set to Unknown