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  3. VRK1
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Cerebellar hypoplasia

Gene: VRK1

Green List (high evidence)
VRK1 (vaccinia related kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000100749
EnsemblGeneIds (GRCh37): ENSG00000100749
OMIM: 602168, Gene2Phenotype
VRK1 is in 13 panels

1 review

Alice Gardham (Genomics England)

I don't know

Only reported in a few families. Offered as diagnostic test on UKGTN. Probable DD on G2P.
Created: 3 Nov 2016, 9:53 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
pontocerebellar hypoplasia type 1A

Publications

Created: 3 Nov 2016, 9:53 a.m.

Panel version: 0.45

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Pontocerebellar Hypoplasia type 1A
  • Pontocerebellar Hypoplasia with infantile SMA
  • Pontocerebellar Hypoplasia with anterior horn cell disease
  • Pontocerebellar Hypoplasia
  • Pontocerebellar hypoplasia type 1A,607596
OMIM
602168
Clinvar variants
Variants in VRK1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 3

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

22/02/2017: Panel revised after internal clinical review and further curation.

21 Dec 2016, Gel status: 3

Set publications

Alice Gardham (Genomics England)

Publications for VRK1 were set to PMID: 19646678; PMID: 21937992; PMID: 19646678; PMID: 21937992; 24126608

11 May 2016, Gel status: 3

Set Phenotypes

Antonio Rueda (GEL)

Phenotypes for gene VRK1 were set to Pontocerebellar Hypoplasia type 1A; Pontocerebellar Hypoplasia with infantile SMA; Pontocerebellar Hypoplasia with anterior horn cell disease;Pontocerebellar Hypoplasia;Pontocerebellar hypoplasia type 1A,607596

11 May 2016, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

11 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

VRK1 was added to Cerebellar hypoplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services

11 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

VRK1 was added to Cerebellar hypoplasiapanel. Source: Radboud University Medical Center, Nijmegen

11 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

VRK1 was added to Cerebellar hypoplasiapanel. Source: UKGTN

20 Jan 2016, Gel status: 0

Added New Source

Helen Savage (Congenica Ltd)

VRK1 was added to Cerebellar hypoplasiapanel. Sources: Literature,Other

20 Jan 2016, Gel status: 0

Created

Helen Savage (Congenica Ltd)

VRK1 was created by helen.savage