Malformations of cortical development

Gene: POMK

Red List (low evidence)

POMK (protein-O-mannose kinase)
EnsemblGeneIds (GRCh38): ENSG00000185900
EnsemblGeneIds (GRCh37): ENSG00000185900
OMIM: 615247, Gene2Phenotype
POMK is in 10 panels

1 review

Alice Gardham (Genomics England)

I don't know

Comment when marking as ready: Red on muscular dystrophy panel
Created: 19 Dec 2016, 2:01 p.m.
Reported in three unrelated families. Not recognised on G2P
Created: 19 Dec 2016, 1:59 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 615249
OMIM
615247
Clinvar variants
Variants in POMK
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

19 Dec 2016, Gel status: 0

Added New Source

Alice Gardham (Genomics England)

POMK was added to Malformations of cortical developmentpanel. Sources: Literature

19 Dec 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

POMK was created by agardham