Congenital myaesthenic syndrome

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

5 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from red to green. ALG14 is associated with a phenotype on OMIM and not on Gene2Phenotype. This gene was promoted to green gene status based on the additional evidence provided by the expert reviewer as there is now enough evidence to support a gene-disease association.
Created: 7 Aug 2019, 1:53 p.m. | Last Modified: 7 Aug 2019, 1:53 p.m.
Panel Version: 1.50

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Michael Oldridge (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust), submitted by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 30 Apr 2019, 9:30 a.m.

Michael Oldridge (NHS)

Green List (high evidence)

In glycosylation pathway, just downstream of DPAGT1/GFPT1. forms complex with DPAGT1. knockdown of ALG14 shows reduction of AChR expression and shown to localise at endplate (Cossins). Schorling et al (28733338) describe 3 unrelated families (2 comp het, 1 hom) with ALG14 mutns. myasthenia demonstrated in 1 family (abnormal nerve conduction, responsive to CMS drugs). Therefore, at least 2 unrelated CMS families (Cossins and Schorling family A) with 2 more families with features that may fit (hypotonia, contractures - Schorling) plus some functional. upgrade to Green
Created: 29 Apr 2019, 4:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Grey to Red. 1 Green review (from gene submitter) but ALG14 Myasthenic mutations only reported in 1 family (PMID:23404334). Not confirmed on DD-G2P, and no other cases in current literature. No animal model.
Created: 2 Feb 2017, 12:02 p.m.
In 2 European sisters with congenital myasthenic syndrome-15 (OMIM:616227), Cossins et al. (2013, PMID:23404334) identified compound heterozygous mutations in ALG14 (c.194C-T, P65L and c.310C-T,R104X).
Created: 2 Feb 2017, 11:33 a.m.
Comment on mode of inheritance: Mode of inheritance confirmed by PMID:23404334 (compound heterozygotes identified).
Created: 2 Feb 2017, 11:31 a.m.

David Beeson (Oxford University)

Green List (high evidence)

Screening available through the Oxford Congenital Myasthenia Service
Created: 27 Jan 2017, 10:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myasthenic syndrome

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
  • Congenital myasthenic syndrome
  • ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227
OMIM
612866
Clinvar variants
Variants in ALG14
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

9 Jul 2020, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ALG14 were set to 28733338; 23404334

7 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

30 Apr 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ALG14 were set to 28733338; 23404334

29 Apr 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ALG14 were set to 28733338

29 Apr 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene ALG14 were changed from PMID: 23404334 to 28733338

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ALG14.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to ALG14.

22 Feb 2017, Gel status: 1

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

22 February 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.

2 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Red List (Low Evidence).

2 Feb 2017, Gel status: 0

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for ALG14 was changed to BIALLELIC, autosomal or pseudoautosomal

2 Feb 2017, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for ALG14 were set to Congenital myasthenic syndrome; ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227

27 Jan 2017, Gel status: 0

Added New Source

David Beeson (Oxford University)

ALG14 was added to Congenital myaestheniapanel. Sources: Eligibility statement prior genetic testing

27 Jan 2017, Gel status: 0

Created

David Beeson (Oxford University)

ALG14 was created by [email protected]