PanelApp (test)
  1. Genes and Genomic Entities
  2. SETX:Ensemblv90

SETX:Ensemblv90

senataxin
OMIM: 608465, ClinGen, DECIPHER

24 panels

Panel Reviews Mode of inheritance Details
24 panels

Red SETX in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.52

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions

    		•  1 review Unknown
    Sources
    • Expert Review Red
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services

    Green SETX 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

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Amyotrophic Lateral Sclerosis 4, juvenile (MIM#602433)

    Green SETX in Incidentalome


    Version 0.370

    		2 reviews Unknown
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green SETX in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.601

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

    Green SETX in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.62

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Autosomal recessive spinocerebellar ataxia type 1, 606002
    • ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia
    • Ataxia-ocular apraxia-2

    Green SETX in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.162

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MIM#606002

    Green SETX in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.290

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, MIM# 606002

    Green SETX in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.45

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • dHMN/dSMA
    • Amyotrophic lateral sclerosis 4, juvenile MIM# 602433
    • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

    Green SETX in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.111

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 1, 606002 (3)

    Green SETX in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Ataxia-ocular apraxia 2

    Green SETX in Congenital nystagmus


    Level 2: Ophthalmological disorders
    Version 1.23

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • NHS Genomic Medicine Service
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, MIM# 606002

    Green SETX in Prepair 1000+


    Level 2: Screening
    Version 2.15

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (MIM#606002)

    Red SETX in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.141

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 1, 606002

    Red SETX in Early-onset Dementia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		1 review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Expert Review Red

    Green SETX in Motor Neurone Disease


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Expert Review Green
    Phenotypes
    • Amyotrophic Lateral Sclerosis 4, juvenile (MIM#602433)

    Green SETX in Incidentalome


    Version 1.0

    		2 reviews Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Expert Review Red

    Green SETX in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

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

    Green SETX in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Autosomal recessive spinocerebellar ataxia type 1, 606002
    • ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia
    • Ataxia-ocular apraxia-2

    Green SETX in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, MIM# 606002

    Green SETX in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • dHMN/dSMA
    • Amyotrophic lateral sclerosis 4, juvenile MIM# 602433
    • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

    Green SETX 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
    • Spinocerebellar ataxia, autosomal recessive 1, 606002 (3)

    Green SETX in Additional findings_Paediatric


    Level 2: Screening
    Version 1.0

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Ataxia-ocular apraxia 2

    Green SETX in Congenital nystagmus


    Level 2: Ophthalmological disorders
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS Genomic Medicine Service
    • Genomics England PanelApp
    • Expert Review Green
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, MIM# 606002

    Green SETX in Prepair 1000+


    Level 2: Screening
    Version 3.0

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Mackenzie's Mission
    • Expert Review Green
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (MIM#606002)