Genes in panel

Ataxia and cerebellar anomalies - narrow panel

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

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pontocerebellar Hypoplasia type 1A
  • Pontocerebellar Hypoplasia with infantile SMA
  • Pontocerebellar Hypoplasia with anterior horn cell disease
  • Pontocerebellar Hypoplasia
  • Pontocerebellar hypoplasia 1A (#607596)
  • Pontocerebellar hypoplasia type 1A,607596
OMIM
602168
Clinvar variants
Variants in VRK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Comment on phenotypes: Implica

19 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Pontocerebellar hypoplasia 1A (#607596) for gene: VRK1

19 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: VRK1 was added gene: VRK1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VRK1 were set to PMID: 21937992; PMID: 19646678; 24126608 Phenotypes for gene: VRK1 were set to Pontocerebellar Hypoplasia; Pontocerebellar Hypoplasia with anterior horn cell disease; Pontocerebellar hypoplasia type 1A,607596; Pontocerebellar Hypoplasia with infantile SMA; Pontocerebellar Hypoplasia type 1A