Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Arthrogryposis

Gene: VRK1

Amber List (moderate evidence)

VRK1 (vaccinia related kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000100749
EnsemblGeneIds (GRCh37): ENSG00000100749
OMIM: 602168, Gene2Phenotype
VRK1 is in 14 panels

1 review

Chirag Patel (Genetic Health Queensland)

I don't know

contractures reported and mutation found in 2 families
Sources: Expert list
Created: 22 Mar 2023, 11:47 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia type 1A, OMIM# 607596

Publications

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