Inborn errors of metabolismGene: ALG14
There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 9 Jul 2020, 12:14 p.m. | Last Modified: 9 Jul 2020, 12:14 p.m.
Panel Version: 2.15
Comment on list classification: Associated with Myasthenic syndrome, congenital, 15, without tubular aggregates 616227 in OMIM, but not associated with phenotype in Gen2Phen. At least 6 variants reported in at least 5 cases with varying phenotypes. PMID 23404334 reports compound heterozygous (p.P65L, P.R104*) sibs, who manifested with myasthenic syndromes, but did not have intellectural disability nor seizures and were 62 and 51 years old when reported. PMID 28733338 reports two compound heterozygous (p.D74N, pV141G), (p.D74N, p.R109Q) cases and a homozygous (p.D74N), with early and lethal neurodegeneration with myasthenic and myopathic features, but the cases died before intellectual disability was manifiest. However, seizures were evident in two compound heterozygous families. PMID 30221345 reports a homozygous splicing variant in a case with intellectual disability and seizures. Functional studies were presented showing that this variant resulting in exon skipping, however, this was not completely prenetrant as wild type protein was detected at a low level in the patient.
Created: 9 Jul 2020, 12:11 p.m. | Last Modified: 9 Jul 2020, 12:11 p.m.
Panel Version: 2.14
Associated with phenotype in OMIM, not in G2P / DD. At least 2 variants reported in 2 sisters
Created: 23 Feb 2017, 5:11 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227
Tag for-review tag was added to gene: ALG14.
Publications for gene: ALG14 were set to 27604308; 23404334
Gene: alg14 has been classified as Amber List (Moderate Evidence).
Source NHS GMS was added to ALG14. Source London North GLH was added to ALG14.
Sarah Leigh: Associated with phenotype in O
Added phenotypes ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Congenital myasthenic sydrome (Disorders of protein N-glycosylation) for gene: ALG14 Publications for gene ALG14 were changed from 27604308 to 27604308; 23404334
gene: ALG14 was added gene: ALG14 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG14 were set to 27604308 Phenotypes for gene: ALG14 were set to ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Congenital myasthenic sydrome (Disorders of protein N-glycosylation)