Limb girdle muscular dystrophy

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

5 reviews

Chiara Marini Bettolo (NUTH)

Green List (high evidence)

Listed as LGMD D3 on new nomenclature/classification.
Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
this gene is now listed on the old and new classification for LGMD (LGMD D3)

https://doi.org/10.1016/j.nmd.2018.05.007
Created: 18 Jun 2019, 9:54 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Limb-girdle muscular dystrophy

Publications

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 30 Apr 2019, 11:45 a.m.

Natalie Forrester (SWGLH - Bristol Genetics)

Red List (low evidence)

1 case but found in 'asymptomatic' relatives. PubMed: 24647604 - (p.D378N) in the Brazilian family (10 affected and 3 asymptomatic) and (p.D378H) in Uruguayan family (9 affected and 3 asymptomatic)
Created: 30 Apr 2019, 11:24 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Muscular dystrophy, limb-girdle, type 1G, 609115

Publications

Elizabeth Harris (Newcastle upon Tyne NHS Foundation Trust)

Green List (high evidence)

Note that an international expert review of the LGMD genes and nomenclature deemed that this is an LGMD causative gene (PMID: 30055862), I therefore strongly feel that this should be included in this panel list
Created: 29 Mar 2019, 1:15 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Limb girdle muscular dystrophy

Publications

Ellen McDonagh (Genomics England Curator)

Removed 'watchlist tag' as this has been made Green.
Created: 28 Nov 2019, 5:21 p.m. | Last Modified: 28 Nov 2019, 5:21 p.m.
Panel Version: 1.167
Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Created: 28 Nov 2019, 5:21 p.m. | Last Modified: 28 Nov 2019, 5:21 p.m.
Panel Version: 1.167
Comment on list classification: Promoted from Amber to Green due to overall majority of Green reviews and clinical comments from GLH representatives. This gene seems to now be deemed a LGMD causative gene.
Created: 28 Nov 2019, 5:20 p.m. | Last Modified: 28 Nov 2019, 5:20 p.m.
Panel Version: 1.166
When the gene is knocked down in zebrafish it causes a myopathic phenotype (same study). No new cases have been reported in the literature since this publication in 2014. As both variants are missense and their function was not directly investigated, and there were several asymptomatic family members with the variant, there does not seem to be enough evidence at this point to make this Green. A 'watchlist' tag was added.
Created: 11 Oct 2018, 2:50 p.m.
PMID: 24647604 - Two families with different heterozygous missense variants reported. The mutations were confirmed using Sanger sequencing in 13 Brazilian (10 affected and 3 asymptomatic) and 12 Uruguayan (9 affected and 3 asymptomatic) members and neither present in 14 non-affected adult members from both families nor in 604 Brazilian controls older than 60. No functional studies of these specific variants were carried out.
Created: 21 May 2018, 5:11 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Muscular dystrophy, limb-girdle, type 1G 609115

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • South West GLH
  • Literature
Phenotypes
  • Muscular dystrophy, limb-girdle, type 1G 609115
  • Limb girdle muscular dystrophy
OMIM
607137
Clinvar variants
Variants in HNRNPDL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

28 Nov 2019, Gel status: 3

Removed Tag

Ellen McDonagh (Genomics England Curator)

Tag watchlist was removed from gene: HNRNPDL.

28 Nov 2019, Gel status: 3

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: HNRNPDL was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

28 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

13 May 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to HNRNPDL.

13 May 2019, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: HNRNPDL were set to 24647604; 15367920

30 Apr 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: HNRNPDL were changed from Muscular dystrophy, limb-girdle, type 1G 609115 to Muscular dystrophy, limb-girdle, type 1G 609115; Limb girdle muscular dystrophy

30 Apr 2019, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: HNRNPDL were set to 24647604; 15367920

30 Apr 2019, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: HNRNPDL were set to 24647604

30 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to HNRNPDL.

30 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to HNRNPDL.

11 Oct 2018, Gel status: 2

Added Tag

Ellen McDonagh (Genomics England Curator)

Tag watchlist tag was added to gene: HNRNPDL.

24 May 2018, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

21 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

HNRNPDL was added to Limb girdle muscular dystrophy panel. Sources: Literature

21 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

HNRNPDL was created by Ellen McDonagh