SETX

senataxin
OMIM: 608465, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Red SETX in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 1.29 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 1.27 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 0.318	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 0.572	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SETX in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.18 Component of the following Super Panels: Ataxia_Superpanel 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 - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.30 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 0.272 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 1.19 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 0.109	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 1.22	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 1.1566	1 review	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 BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Spinocerebellar ataxia, autosomal recessive 1, 606002