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Prepair 500+

Gene: VRK1

Green List (high evidence)

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

1 review

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

Green List (high evidence)

Complex phenotype with mixed peripheral and central neurological features. Variant combination determines the neurological phenotype heterogeneity.

HGNC approved symbol/name: VRK1
Is the phenotype(s) severe and onset <18yo? Y
Known technical challenges? N
Gene reported in >3 independent families
Created: 7 Feb 2025, 5:15 a.m. | Last Modified: 7 Feb 2025, 5:15 a.m.
Panel Version: 1.1460

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia type 1A, MIM# 607596, MONDO:0011866; Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pontocerebellar hypoplasia type 1A, MIM# 607596, MONDO:0011866
  • Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542
OMIM
602168
Clinvar variants
Variants in VRK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 May 2025, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: vrk1 has been classified as Green List (High Evidence).

25 May 2025, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: VRK1 were changed from Pontocerebellar hypoplasia type 1A, 607596 (3) to Pontocerebellar hypoplasia type 1A, MIM# 607596, MONDO:0011866; Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542

25 May 2025, Gel status: 3

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: VRK1 were set to

3 Nov 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

gene: VRK1 was added gene: VRK1 was added to Prepair 500+. Sources: Mackenzie's Mission,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 type 1A, 607596 (3)