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Early onset or syndromic epilepsy

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

Helen Lord (Oxford Medical Genetics Laboratories)

Green List (high evidence)

In the Kvarnung et al paper the 2 affected siblings presented with severe intellectual disability, epilepsy, behavioural problems and mild dysmorphic features, - splicing variants. Less severe than hom and compound het cases reported by Schorling et al, 2017. Possiblity of missed cases if the phenotype is less severe (doesn't include early severe neurodegeneration with mopathic and myasthenic features).
Created: 27 Jan 2021, 3:34 p.m. | Last Modified: 27 Jan 2021, 3:34 p.m.
Panel Version: 2.274

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
epilepsy; behavioural problems; severe developmental delay; mild dysmorphic features; severe neurodegeneration with myopathic and myasthenic features

Publications

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 5:34 p.m. | Last Modified: 3 Mar 2022, 5:34 p.m.
Panel Version: 2.491
For-review tag has been added to highlight whether this gene should be green on this panel due to the uncoupling of metabolic genes from Genetic epilepsy syndromes panel.
Created: 2 Feb 2021, 10:27 a.m. | Last Modified: 2 Feb 2021, 10:27 a.m.
Panel Version: 2.287
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review and depending on the policy of inclusion of metabolic genes on this panel.
Created: 9 Jul 2020, 11:57 a.m. | Last Modified: 9 Jul 2020, 11:57 a.m.
Panel Version: 2.115
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.
Sources: Literature
Created: 9 Jul 2020, 11:53 a.m. | Last Modified: 9 Jul 2020, 12:10 p.m.
Panel Version: 2.115

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myasthenic syndrome; ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital myasthenic syndrome
  • ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227
OMIM
612866
Clinvar variants
Variants in ALG14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag for-review was removed from gene: ALG14.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to ALG14. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

9 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: alg14 has been classified as Amber List (Moderate Evidence).

9 Jul 2020, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: ALG14 was added gene: ALG14 was added to Genetic epilepsy syndromes. Sources: Literature for-review tags were added to gene: ALG14. Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG14 were set to 28733338; 23404334; 30221345 Phenotypes for gene: ALG14 were set to Congenital myasthenic syndrome; ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227 Review for gene: ALG14 was set to AMBER