Congenital Disorders of Glycosylation
Gene: POMKEnsemblGeneIds (GRCh38): ENSG00000185900
EnsemblGeneIds (GRCh37): ENSG00000185900
OMIM: 615247, Gene2Phenotype
POMK is in 12 panels
1 review
Paul De Fazio (Victorian Clinical Genetics Services)
At least 3 families described with muscular dystrophy-dystroglycanopathy type A (PMID:23519211, 24556084, 24925318)
1 family described with muscular dystrophy-dystroglycanopathy type C (PMID:24925318)
The POMK gene encodes protein-O-mannose kinase, which is required for proper glycosylation and function of the dystroglycan complex (OMIM)
Green if dystroglycanopathy is a CDG, but I don't know the answer to that question.Created: 22 Jul 2020, 4:13 a.m. | Last Modified: 22 Jul 2020, 4:13 a.m.
Panel Version: 0.96
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 (MIM #615249)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- OMIM
- 615247
- Clinvar variants
- Variants in POMK
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Congenital Disorders of Glycosylation
- Fetal anomalies
- Prepair 1000+
- Arthrogryposis
- Mendeliome
- Intellectual disability syndromic and non-syndromic
- Callosome
- Genetic Epilepsy
- Hydrocephalus_Ventriculomegaly
- Muscular dystrophy and myopathy_Paediatric
History Filter Activity
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: pomk has been classified as Green List (High Evidence).
Set mode of inheritance
Seb Lunke (Victorian Clinical Genetics Services)Mode of inheritance for gene: POMK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: POMK was added gene: POMK was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POMK was set to Unknown