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Genetic Epilepsy

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)

I don't know

Condition is associated with brain malformations, which are expected to cause epilepsy.
Created: 13 Feb 2024, 10:20 a.m. | Last Modified: 13 Feb 2024, 10:20 a.m.
Panel Version: 0.2253

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Chris Ciotta (Victorian Clinical Genetics Services)

Red List (low evidence)

- PMID:24925318, 1/3 unrelated individuals with bi-allelic POMK variants presented with seizures along with Cobblestone lissencephaly and hydrocephalus. This individual was compound heterozgyous for a high impact frameshift variant (c.286delT, p.F96fs) and a missense variant (c.905T>A , p.V302D).
Sources: Literature
Created: 5 Jan 2024, 3:57 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

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 MIM#615249
OMIM
615247
Clinvar variants
Variants in POMK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2024, 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 Feb 2024, 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).

5 Jan 2024, Gel status: 0

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

Chris Ciotta (Victorian Clinical Genetics Services)

gene: POMK was added gene: POMK was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMK were set to PMID: 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 RED