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 1.39 Component of the following Super Panels: Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	3 reviews	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 0.427 Component of the following Super Panels: Neuromuscular Superpanel	1 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 1.91	1 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 1.3512	1 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 1.357	1 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 0.565	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green VRK1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.594	0 reviews	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 1.410	1 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 1.60 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	1 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 1.68 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	1 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 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pontocerebellar hypoplasia type 1A, 607596 (3)
Green VRK1 in Fetal anomalies Version 1.465	1 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 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission 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 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pontocerebellar hypoplasia type 1A, MIM# 607596, MONDO:0011866 Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542