SETX

senataxin
OMIM: 608465, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Amber SETX in Neuromuscular disorders Version 5.352 Latest signed off version: v5.43 (4 Mar 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes Amyotrophic lateral sclerosis 4, juvenile 602433
Green SETX in Ataxia and cerebellar anomalies - narrow panel Version 2.300 Latest signed off version: v2.23 (8 Oct 2020) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, OMIM:606002
Green SETX in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.303	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, OMIM:606002
Green SETX in Albinism or congenital nystagmus Version 1.23 Latest signed off version: v1.2 (3 Mar 2020)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002 Tags Q2_22_MOI
Green SETX in Neurodegenerative disorders - adult onset Version 2.275 Latest signed off version: v2.178 (5 Aug 2021)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433
Green SETX in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.542	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002 Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433
Green SETX in Inborn errors of metabolism Version 2.263 Latest signed off version: v2.3 (17 Feb 2020) Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002 Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433
Green SETX in Amyotrophic lateral sclerosis/motor neuron disease Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.60	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, OMIM:606002
Amber SETX in Paediatric motor neuronopathies Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.79 Latest signed off version: v1.30 (4 Mar 2020) Component of the following Super Panels: Hypotonic infant Neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Phenotypes Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433
Green SETX in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.454	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002 Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433 Tags Q2_22_MOI
Red SETX in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 3.1651 Latest signed off version: v3.2 (13 Feb 2020) Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Ataxia-ocular apraxia-2, 606002 Amyotrophic lateral sclerosis 4, juvenile, 602433
Green SETX in Hereditary ataxia - adult onset Version 2.158 Latest signed off version: v2.13 (6 Oct 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, OMIM:606002
Green SETX in Hereditary neuropathy NOT PMP22 copy number Version 1.103 Latest signed off version: v1.36 (5 Aug 2021)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS NHS GMS London North GLH Phenotypes Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002
Green SETX in Childhood onset dystonia or chorea or related movement disorder Version 1.240 Latest signed off version: v1.137 (5 Aug 2021)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Green SETX in Severe Paediatric Disorders Version 1.127	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, 606002 Amyotrophic lateral sclerosis 4, juvenile, 602433