Muscular dystrophy and myopathy_Paediatric
Gene: ALG14EnsemblGeneIds (GRCh38): ENSG00000172339
EnsemblGeneIds (GRCh37): ENSG00000172339
OMIM: 612866, Gene2Phenotype
ALG14 is in 9 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
2 cases have been reported with congenital myopathy with biallelic variants.
Sources: LiteratureCreated: 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: alg14 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: alg14 has been classified as Amber List (Moderate Evidence).
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