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This Panel is marked as Retired

Research panel - Severe Paediatric Disorders
Gene: SETX

SETX (senataxin)
EnsemblGeneIds (GRCh38): ENSG00000107290
EnsemblGeneIds (GRCh37): ENSG00000107290
OMIM: 608465, Gene2Phenotype
SETX is in 13 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: SETX; Recommended initial gene rating: Green List (high evidence); Phenotypes: Amyotrophic lateral sclerosis 4, juvenile, 602433 (3) | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, 606002 (3); Mode of inheritance: Autosomal dominant | Autosomal recessive
Created: 20 Feb 2020, 5:25 p.m. | Last Modified: 20 Feb 2020, 5:25 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:25 p.m.
Last Modified: 20 Feb 2020, 5:25 p.m.
Panel version: 0.12

Details

Mode of Inheritance

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

OMIM

Clinvar variants

Variants in SETX

Penetrance

None

Publications

30847515

Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene SETX were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, 606002; Amyotrophic lateral sclerosis 4, juvenile, 602433 for gene: SETX

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, 606002; Amyotrophic lateral sclerosis 4, juvenile, 602433 for gene: SETX

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, 606002; Amyotrophic lateral sclerosis 4, juvenile, 602433 for gene: SETX

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, 606002; Amyotrophic lateral sclerosis 4, juvenile, 602433 for gene: SETX

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene SETX was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, 606002; Amyotrophic lateral sclerosis 4, juvenile, 602433 for gene: SETX

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to SETX.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SETX. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SETX was added gene: SETX was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SETX was set to