Congenital disorders of glycosylation

Gene: POMK

Amber List (moderate evidence)

POMK (protein-O-mannose kinase)
EnsemblGeneIds (GRCh38): ENSG00000185900
EnsemblGeneIds (GRCh37): ENSG00000185900
OMIM: 615247, Gene2Phenotype
POMK is in 14 panels

2 reviews

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
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
Tags
Q2_21_rating
OMIM
615247
Clinvar variants
Variants in POMK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

8 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

8 Feb 2021, Gel status: 0

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: POMK.

8 Feb 2021, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: POMK were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 OMIM:615249 to 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

8 Feb 2021, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: POMK were set to 23519211; 24556084; 24925318

8 Feb 2021, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: POMK were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 (MIM #615249) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 OMIM:615249

22 Jul 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: POMK was added gene: POMK was added to Congenital disorders of glycosylation. Sources: Expert list Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMK were set to 23519211; 24556084; 24925318 Phenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 (MIM #615249) Review for gene: POMK was set to GREEN gene: POMK was marked as current diagnostic