Hereditary ataxia
Gene: VRK1
VRK1 (vaccinia related kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000100749
EnsemblGeneIds (GRCh37): ENSG00000100749
OMIM: 602168, Gene2Phenotype
VRK1 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000100749
EnsemblGeneIds (GRCh37): ENSG00000100749
OMIM: 602168, Gene2Phenotype
VRK1 is in 13 panels
1 review
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Couple of different families, one family homozygous for a good frameshift variantCreated: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia 1A (#607596)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Pontocerebellar hypoplasia 1A (#607596)
- OMIM
- 602168
- Clinvar variants
- Variants in VRK1
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary ataxia
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary neuropathy
- Severe microcephaly
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Fetal anomalies
- Cerebellar hypoplasia
- Paediatric motor neuronopathies
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary neuropathy or pain disorder
- DDG2P
History Filter Activity
11 Jul 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
11 Jul 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
24 Nov 2015, Gel status: 0
Added New Source
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)VRK1 was added to Hereditary ataxiapanel. Sources: Expert List
24 Nov 2015, Gel status: 0
Created
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)VRK1 was created by jonathan.williams