Cerebellar hypoplasia
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)
Offered on UKGTN as Muscle Eye Brain gene. Not clear how many affected patients will have cerebellar hypoplasiaCreated: 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- UKGTN
- 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
-
- Likely inborn error of metabolism
- Fetal anomalies
- Arthrogryposis
- Congenital muscular dystrophy
- Hydrocephalus
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Malformations of cortical development
- Cerebellar hypoplasia
- Bilateral congenital or childhood onset cataracts
- Intellectual disability
- DDG2P
- Congenital disorders of glycosylation
- Ataxia and cerebellar anomalies - narrow panel
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