Arthrogryposis
Gene: VRK1
VRK1 (vaccinia related kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000100749
EnsemblGeneIds (GRCh37): ENSG00000100749
OMIM: 602168, Gene2Phenotype
VRK1 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000100749
EnsemblGeneIds (GRCh37): ENSG00000100749
OMIM: 602168, Gene2Phenotype
VRK1 is in 14 panels
1 review
Chirag Patel (Genetic Health Queensland)
contractures reported and mutation found in 2 families
Sources: Expert listCreated: 22 Mar 2023, 11:47 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 1A, OMIM# 607596
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Pontocerebellar hypoplasia type 1A, OMIM# 607596
- OMIM
- 602168
- Clinvar variants
- Variants in VRK1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cerebellar and Pontocerebellar Hypoplasia
- Motor Neurone Disease
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Prepair 1000+
- Microcephaly
- Arthrogryposis
- Mendeliome
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Hereditary Neuropathy_CMT - isolated
- Callosome
- Ataxia - paediatric
History Filter Activity
23 Mar 2023, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: vrk1 has been classified as Amber List (Moderate Evidence).
22 Mar 2023, Gel status: 2
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: vrk1 has been classified as Amber List (Moderate Evidence).
22 Mar 2023, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: VRK1 was added gene: VRK1 was added to Arthrogryposis. Sources: Expert list Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VRK1 were set to PMID: 21937992, 21937992 Phenotypes for gene: VRK1 were set to Pontocerebellar hypoplasia type 1A, OMIM# 607596 Review for gene: VRK1 was set to AMBER