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Mendeliome

Gene: HNRNPDL

Green List (high evidence)

HNRNPDL (heterogeneous nuclear ribonucleoprotein D like)
EnsemblGeneIds (GRCh38): ENSG00000152795
EnsemblGeneIds (GRCh37): ENSG00000152795
OMIM: 607137, Gene2Phenotype
HNRNPDL is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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.
Sources: Expert list
Created: 27 Apr 2021, 5:02 a.m.

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, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal dominant 3 MIM#609115
OMIM
607137
Clinvar variants
Variants in HNRNPDL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

27 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

27 Apr 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: HNRNPDL was added gene: HNRNPDL was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: HNRNPDL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HNRNPDL were set to 24647604; 31267206; 31995753; 32407983; 32904822; 32367994 Phenotypes for gene: HNRNPDL were set to Muscular dystrophy, limb-girdle, autosomal dominant 3 MIM#609115 Review for gene: HNRNPDL was set to GREEN gene: HNRNPDL was marked as current diagnostic