Regression
Gene: ALG14EnsemblGeneIds (GRCh38): ENSG00000172339
EnsemblGeneIds (GRCh37): ENSG00000172339
OMIM: 612866, Gene2Phenotype
ALG14 is in 9 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Three families reported in PMID 28733338 with a neurodegenerative phenotype in infancy.
Note there are 2 other families reported, one with myasthenic syndrome, no report of ID; second with predominantly ID phenotype, no repression. ALG14 is part of the UDP-GlcNAc transferase, which catalyzes a key step in endoplasmic reticulum N-linked glycosylation. These may all represent a spectrum of severity for a CDG.
Sources: Expert ReviewCreated: 6 Oct 2020, 9:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036
- OMIM
- 612866
- Clinvar variants
- Variants in ALG14
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: alg14 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: alg14 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ALG14 was added gene: ALG14 was added to Regression. Sources: Expert Review Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG14 were set to 30221345; 23404334; 28733338 Phenotypes for gene: ALG14 were set to Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036 Review for gene: ALG14 was set to GREEN