Limb girdle muscular dystrophy

Gene: POMK

Red List (low evidence)

POMK (protein-O-mannose kinase)
EnsemblGeneIds (GRCh38): ENSG00000185900
EnsemblGeneIds (GRCh37): ENSG00000185900
OMIM: 615247, Gene2Phenotype
POMK is in 10 panels

7 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene will remain Red based on the overall reviews and comments from reviewers.
Created: 28 Nov 2019, 5:33 p.m. | Last Modified: 28 Nov 2019, 5:33 p.m.
Panel Version: 1.184

Chiara Marini Bettolo (NUTH)

Red List (low evidence)

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), autosomal recessive disorder with congenital muscular dystrophy
Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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)

I don't know

More evidence needed. PubMed: 24925318 - 2 sibs, born of consanguineous Jordanian parents, with a homozygous truncating mutation in the POMK gene (Q109X). The mutation was found by homozygosity mapping followed by candidate gene sequencing. Morpholino knockdown of the pomk gene in zebrafish embryos resulted in a small head, delayed ocular development, shortened thicker tail, U-shaped somites, motility defects, and increased mortality. Analysis of the tail muscle showed dystrophic features and decreased DAG1 glycosylation. PubMed: 29910097 compound heterozygous mutations causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair (1 variant quite a bit of MAF).
Created: 30 Apr 2019, 11:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249

Publications

Elizabeth Harris (Newcastle upon Tyne NHS Foundation Trust)

Given the spectrum of neuromuscular phenotypes associated with this gene there is justification for including this in this panel
Created: 29 Mar 2019, 1:53 p.m.

Phenotypes
limb girdle musuclar dystorphy; congenital muscular dystrophy

Publications

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not G2P. Found in 1/4 sources. One Expert reviewer recommends Amber. One variant (c.325C>T, p.Q109*) has been identified in consanguineous Jordanian twins with Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, (OMIM 616094). This variant has also been reported in consanguineous siblings (ethnicity not reported) with Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 (OMIM 615249).
Emma Clement comments: insufficient evidence under the strongest criteria to make this green, due to lack of numbers. However, based on the behaviour of the other genes in this pathway you would expect this gene to produce CMD and LGMD phenotypes.
Created: 9 Jun 2016, 2:41 p.m.

Ellen Thomas (Genomics England Curator)

Comment on list classification: Good evidence in more severe forms; less clear how commonly this gene causes LGMD phenotype.
Created: 29 May 2016, 7:41 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Yorkshire and North East GLH
  • NHS GMS
  • South West GLH
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249
  • limb girdle muscular dystrophy
  • congenital muscular dystrophy
OMIM
615247
Clinvar variants
Variants in POMK
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: pomk has been classified as Red List (Low Evidence).

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to POMK.

13 May 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: POMK were changed from ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249; mb girdle musuclar dystorphy; congenital muscular dystrophy to ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249; limb girdle muscular dystrophy; congenital muscular dystrophy

30 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: POMK were changed from ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 to ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249; mb girdle musuclar dystorphy; congenital muscular dystrophy

30 Apr 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: POMK were set to 24925318; 24556084

30 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to POMK.

30 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to POMK.

27 Jul 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.

9 Jun 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for POMK were set to ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249

9 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

9 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

9 Jun 2016, Gel status: 2

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for POMK was changed to BIALLELIC, autosomal or pseudoautosomal

9 Jun 2016, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for POMK were set to 24925318; 24556084

9 Jun 2016, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for POMK were set to 24925318

29 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

28 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

POMK was added to Limb girdle muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen