Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: HNRNPDLEnsemblGeneIds (GRCh38): ENSG00000152795
EnsemblGeneIds (GRCh37): ENSG00000152795
OMIM: 607137, Gene2Phenotype
HNRNPDL is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
At least 5 families reported with either D378H/N, and supporting functional assays demonstrating that these variants affect protein function. No other pathogenic variants have been reported. A VUS has been reported (along with another SETX variant) in an individual with a multi-system disorder, including a metabolic myopathy.Created: 27 Apr 2021, 4:58 a.m. | Last Modified: 27 Apr 2021, 4:58 a.m.
Panel Version: 0.56
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Muscular dystrophy, limb-girdle, autosomal dominant 3 MIM#609115
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Muscular dystrophy, limb-girdle, type 1G 609115
- OMIM
- 607137
- Clinvar variants
- Variants in HNRNPDL
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: HNRNPDL were set to
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: hnrnpdl has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: HNRNPDL was added gene: HNRNPDL was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: HNRNPDL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HNRNPDL were set to Muscular dystrophy, limb-girdle, type 1G 609115