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  2. Hereditary Neuropathy_CMT - isolated
  3. VRK1
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Hereditary Neuropathy_CMT - isolated

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

VRK1 variants have been segregated with motor neuron diseases including SMA phenotypes or hereditary complex motor and sensory axonal neuropathy (HMSN), with or without pontocerebellar hypoplasia or microcephaly.
Created: 28 Sep 2020, 4:54 a.m. | Last Modified: 28 Sep 2020, 4:54 a.m.
Panel Version: 0.53

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542

Publications

Created: 28 Sep 2020, 4:54 a.m.
Last Modified: 28 Sep 2020, 4:54 a.m.
Panel version: 1.35

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • 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 Oct 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: VRK1 were changed from Distal hereditary motor neuropathy; dHMN/dSMA to Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542

28 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: VRK1 were set to

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: VRK1 was added gene: VRK1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VRK1 were set to Distal hereditary motor neuropathy; dHMN/dSMA