Hereditary ataxia with onset in adulthood
Gene: VRK1EnsemblGeneIds (GRCh38): ENSG00000100749
EnsemblGeneIds (GRCh37): ENSG00000100749
OMIM: 602168, Gene2Phenotype
VRK1 is in 13 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene AmberCreated: 19 Sep 2019, 1:17 p.m. | Last Modified: 19 Sep 2019, 1:17 p.m.
Panel Version: 1.203
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Only two families reported with the pontocerebellar hypoplasia phenotype and no functional evidence for gene. In addition slightly worrying that phenotypes without pontocerebellar hypoplasia reported with similar AR null variantsCreated: 15 Apr 2019, 10:06 a.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 Amber
- NHS GMS
- Wessex and West Midlands GLH
- Hereditary ataxia v1.148
- Phenotypes
-
- Pontocerebellar hypoplasia 1A, 607596
- OMIM
- 602168
- Clinvar variants
- Variants in VRK1
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy
- Paediatric motor neuronopathies
- Ataxia and cerebellar anomalies - narrow panel
- DDG2P
- Cerebellar hypoplasia
- Intellectual disability
- Hereditary ataxia
- Fetal anomalies
- Severe microcephaly
- Hereditary neuropathy or pain disorder
- Adult onset neurodegenerative disorder
History Filter Activity
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: vrk1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Pontocerebellar hypoplasia 1A, 607596 for gene: VRK1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to VRK1.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to VRK1.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Louise Daugherty: Comment on phenotypes: Implica
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: VRK1 were changed from Pontocerebellar hypoplasia 1A (#607596) to Pontocerebellar hypoplasia 1A, 607596
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: VRK1 was added gene: VRK1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VRK1 were set to Pontocerebellar hypoplasia 1A (#607596)