Cerebellar hypoplasia

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)

Offered on UKGTN as Muscle Eye Brain gene. Not clear how many affected patients will have cerebellar hypoplasia
Created: 14 Nov 2016, 4:25 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

History Filter Activity

22 Feb 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

22/02/2017: Panel revised after internal clinical review and further curation.

14 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

POMK was created by agardham

14 Nov 2016, Gel status: 1

Added New Source

Alice Gardham (Genomics England)

POMK was added to Cerebellar hypoplasiapanel. Sources: UKGTN,Literature