Congenital disorders of glycosylation
Gene: POMK

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

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 9:14 a.m. | Last Modified: 1 Feb 2023, 9:14 a.m.

Panel Version: 3.4

Created: 1 Feb 2023, 9:14 a.m.
Last Modified: 1 Feb 2023, 9:14 a.m.
Panel version: 3.4

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 8 Feb 2021, 4:40 p.m. | Last Modified: 8 Feb 2021, 4:40 p.m.

Panel Version: 2.55

Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for OMIM:615249. At least five variants reported in at least three unrelated cases of OMIM:615249.
Created: 8 Feb 2021, 4:38 p.m. | Last Modified: 8 Feb 2021, 4:38 p.m.

Panel Version: 2.53

Created: 8 Feb 2021, 4:38 p.m.
Last Modified: 8 Feb 2021, 4:38 p.m.
Panel version: 2.53

Zornitza Stark (Australian Genomics)

Green List (high evidence)

At least 3 families described with muscular dystrophy-dystroglycanopathy type A (PMID:23519211, 24556084, 24925318)

1 family described with muscular dystrophy-dystroglycanopathy type C (PMID:24925318)

The POMK gene encodes protein-O-mannose kinase, which is required for proper glycosylation and function of the dystroglycan complex
Sources: Expert list
Created: 22 Jul 2020, 8:05 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

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

Created: 22 Jul 2020, 8:05 a.m.

Panel version: 2.14

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

Phenotypes

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 OMIM:615249
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 MONDO:0014101

OMIM

615247

Clinvar variants

Variants in POMK

Penetrance

None

Publications

Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_21_rating was removed from gene: POMK.

1 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to POMK. Source NHS GMS was added to POMK. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

8 Feb 2021, Gel status: 2