Neuromuscular arthrogryposis

Gene: ALG2

Amber List (moderate evidence)

ALG2 (ALG2, alpha-1,3/1,6-mannosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000119523
EnsemblGeneIds (GRCh37): ENSG00000119523
OMIM: 607905, Gene2Phenotype
ALG2 is in 10 panels

2 reviews

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: 28 Apr 2019, 6:36 p.m.

Michael Oldridge (NHS)

I don't know

one family
Created: 28 Apr 2019, 6:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myasthenic syndromes; Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228; Congenital disorder of glycosylation CDG type Ii, 607906

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Congenital myasthenic syndromes
  • Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228
  • Congenital disorder of glycosylation CDG type Ii, 607906
OMIM
607905
Clinvar variants
Variants in ALG2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 May 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ALG2.

28 Apr 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to ALG2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

28 Apr 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: ALG2 was added gene: ALG2 was added to Neuromuscular arthrogryposis. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG2 were set to 23404334 Phenotypes for gene: ALG2 were set to Congenital myasthenic syndromes; Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228; Congenital disorder of glycosylation CDG type Ii, 607906