Malformations of cortical development
Gene: POMK
POMK (protein-O-mannose kinase)
EnsemblGeneIds (GRCh38): ENSG00000185900
EnsemblGeneIds (GRCh37): ENSG00000185900
OMIM: 615247, Gene2Phenotype
POMK is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000185900
EnsemblGeneIds (GRCh37): ENSG00000185900
OMIM: 615247, Gene2Phenotype
POMK is in 13 panels
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: Red on muscular dystrophy panelCreated: 19 Dec 2016, 2:01 p.m.
Reported in three unrelated families. Not recognised on G2PCreated: 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
-
- Fetal anomalies
- Malformations of cortical development
- Congenital muscular dystrophy
- Bilateral congenital or childhood onset cataracts
- Intellectual disability
- Congenital disorders of glycosylation
- Likely inborn error of metabolism
- Hydrocephalus
- Ataxia and cerebellar anomalies - narrow panel
- DDG2P
- Cerebellar hypoplasia
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Arthrogryposis
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