VRK1

vaccinia related kinase 1
OMIM: 602168, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Amber VRK1 in Motor Neurone Disease Level 2: Neurology and neurodevelopmental disorders Version 1.24 Component of the following Super Panels: Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Adult-onset spinal muscular atrophy without pontocerebellar hypoplasia Distal hereditary motor neuropathy dHMN/dSMA
Amber VRK1 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.411 Component of the following Super Panels: Neuromuscular Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Pontocerebellar hypoplasia type 1A, OMIM# 607596
Green VRK1 in Cerebellar and Pontocerebellar Hypoplasia Level 2: Neurology and neurodevelopmental disorders Version 1.65	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia type 1A, MIM# 607596
Green VRK1 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia type 1A, MIM# 607596 Adult-onset spinal muscular atrophy without pontocerebellar hypoplasia Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542
Green VRK1 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.269	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia type 1A MIM#607596
Green VRK1 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green VRK1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green VRK1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes pontocerebellar hypoplasia type 1A MONDO:0011866
Amber VRK1 in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.26 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Pontocerebellar hypoplasia type 1A, 607596
Green VRK1 in Hereditary Neuropathy_CMT - isolated Level 2: Neurology and neurodevelopmental disorders Version 1.48 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542
Green VRK1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pontocerebellar hypoplasia type 1A, 607596 (3)
Green VRK1 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Pontocerebellar hypoplasia type 1A MIM#607596
Green VRK1 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pontocerebellar hypoplasia type 1A, 607596 (3)
Green VRK1 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pontocerebellar hypoplasia type 1A, 607596 (3)