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Intellectual disability

Gene: ALG14

Green List (high evidence)

ALG14 (ALG14, UDP-N-acetylglucosaminyltransferase subunit)
EnsemblGeneIds (GRCh38): ENSG00000172339
EnsemblGeneIds (GRCh37): ENSG00000172339
OMIM: 612866, Gene2Phenotype
ALG14 is in 8 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Have added the "for review" tag, to address the phenotypic variability of published carriers of ALG14 variants. This will be reviewed as more cases are reported.
Created: 25 Jun 2020, 2:26 p.m. | Last Modified: 9 Jul 2020, 11:29 a.m.
Panel Version: 3.157
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: 25 Jun 2020, 2:24 p.m. | Last Modified: 25 Jun 2020, 2:24 p.m.
Panel Version: 3.101

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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.
Sources: Expert list
Created: 27 Jan 2020, 9:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 15, without tubular aggregates, MIM#616227; Intellectual disability

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 15, without tubular aggregates 616227
  • Intellectual disability
Tags
for-review
OMIM
612866
Clinvar variants
Variants in ALG14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: alg14 has been classified as Green List (High Evidence).

25 Jun 2020, Gel status: 0

Added Tag

Sarah Leigh (Genomics England Curator)

Tag for-review tag was added to gene: ALG14.

25 Jun 2020, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ALG14 were changed from Myasthenic syndrome, congenital, 15, without tubular aggregates, MIM#616227; Intellectual disability to Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual disability

27 Jan 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: ALG14 was added gene: ALG14 was added to Intellectual disability. Sources: Expert list 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 Myasthenic syndrome, congenital, 15, without tubular aggregates, MIM#616227; Intellectual disability Review for gene: ALG14 was set to GREEN gene: ALG14 was marked as current diagnostic