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 14 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

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