VRK1

VRK serine/threonine kinase 1
OMIM: 602168, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Amber VRK1 in Motor Neurone Disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Royal Melbourne Hospital
  • Expert Review Amber
Phenotypes
  • Adult-onset spinal muscular atrophy without pontocerebellar hypoplasia
  • Distal hereditary motor neuropathy
  • dHMN/dSMA

Green VRK1 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia type 1A, MIM# 607596

Green VRK1 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green VRK1 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green VRK1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Genetic Health Queensland
  • Expert Review Green
Phenotypes
  • pontocerebellar hypoplasia type 1A MONDO:0011866

Green VRK1 in Hereditary Neuropathy_CMT - isolated


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542

Green VRK1 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia type 1A, 607596 (3)

Green VRK1 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia type 1A, MIM# 607596, MONDO:0011866
  • Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542

Green VRK1 in Prepair 500+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia type 1A, MIM# 607596, MONDO:0011866
  • Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542