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  2. Limb-Girdle Muscular Dystrophy and Distal Myopathy
  3. POMK
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Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: POMK

Amber List (moderate evidence)
POMK (protein-O-mannose kinase)
EnsemblGeneIds (GRCh38): ENSG00000185900
EnsemblGeneIds (GRCh37): ENSG00000185900
OMIM: 615247, Gene2Phenotype
POMK is in 12 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association with a broad spectrum of alpha-dystroglycanopathies, more than 10 families reported.
Created: 24 Apr 2022, 7:48 a.m. | Last Modified: 24 Apr 2022, 7:48 a.m.
Panel Version: 0.13224

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 24 Apr 2022, 7:48 a.m.
Last Modified: 24 Apr 2022, 7:48 a.m.
Panel version: Imported from Mendeliome panel version 0.13224

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Muscular dystrophy gene however there is limited evidence associating gene with LGMD phenotype.

PMID: 24925318: 1 family reported with a clinical diagnosis of LGMD. CK levels were elevated and onset in infancy. One additional patient with a clinical diagnosis of CMD.

PMID: 29910097: 2 siblings reported with mild LGMD, childhood onset. CK levels were elevated. Primarily muscle involvement.
Created: 29 Jun 2020, 5:17 a.m. | Last Modified: 29 Jun 2020, 5:17 a.m.
Panel Version: 0.18

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 29 Jun 2020, 5:17 a.m.
Last Modified: 29 Jun 2020, 5:17 a.m.
Panel version: 0.18

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Amber
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249
OMIM
615247
Clinvar variants
Variants in POMK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pomk has been classified as Amber List (Moderate Evidence).

29 Jun 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: POMK were set to

29 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pomk has been classified as Amber List (Moderate Evidence).

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: POMK was added gene: POMK was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: 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