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  2. Congenital muscular dystrophy and congenital myopathy
  3. POMK
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Congenital muscular dystrophy and congenital myopathy

Gene: POMK

Green List (high evidence)
POMK (protein-O-mannose kinase)
EnsemblGeneIds (GRCh38): ENSG00000185900
EnsemblGeneIds (GRCh37): ENSG00000185900
OMIM: 615247, Gene2Phenotype
POMK is in 13 panels

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 29 Apr 2019, 3:37 p.m.
Created: 29 Apr 2019, 3:37 p.m.

Copied from panel: Congenital muscular dystrophy v3.78

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 29 Apr 2019, 3:27 p.m.

Copied from panel: Congenital muscular dystrophy v3.78

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green due to expert review and >3 family reports for homozygous variants Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12.
Created: 6 Jan 2017, 9:46 a.m.
Created: 6 Jan 2017, 9:46 a.m.

Copied from panel: Congenital muscular dystrophy v3.78

Emma Clement (Great Ormond Street Hospital)

Green List (high evidence)

AKA SGK196- dystroglycanopahty phenotype.
Created: 19 Dec 2016, 11:47 a.m.

Phenotypes
?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094

Created: 19 Dec 2016, 11:47 a.m.

Copied from panel: Congenital muscular dystrophy v3.78

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London South GLH
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, OMIM:615249
OMIM
615247
Clinvar variants
Variants in POMK
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Feb 2023, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: POMK was added gene: POMK was added to Congenital muscular dystrophy and congenital myopathy. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,London South GLH Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMK were set to 23519211; 24556084 Phenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, OMIM:615249 Penetrance for gene: POMK were set to Complete