Muscular dystrophy and myopathy_Paediatric

Gene: ALG14

Amber List (moderate evidence)

ALG14 (ALG14, UDP-N-acetylglucosaminyltransferase subunit)
EnsemblGeneIds (GRCh38): ENSG00000172339
EnsemblGeneIds (GRCh37): ENSG00000172339
OMIM: 612866, Gene2Phenotype
ALG14 is in 9 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

2 cases have been reported with congenital myopathy with biallelic variants.
Sources: Literature
Created: 1 Aug 2024, 2:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital myopathy MONDO:0019952

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • congenital myopathy MONDO:0019952
OMIM
612866
Clinvar variants
Variants in ALG14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Aug 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

1 Aug 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

1 Aug 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ALG14 was added gene: ALG14 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG14 were set to 38982518; 28733338 Phenotypes for gene: ALG14 were set to congenital myopathy MONDO:0019952 Review for gene: ALG14 was set to AMBER gene: ALG14 was marked as current diagnostic