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Severe Paediatric Disorders

Gene: ATXN7

Green List (high evidence)

ATXN7 (ataxin 7)
EnsemblGeneIds (GRCh38): ENSG00000163635
EnsemblGeneIds (GRCh37): ENSG00000163635
OMIM: 607640, Gene2Phenotype
ATXN7 is in 14 panels

2 reviews

Dmitrijs Rots (Children's Clinical University Hospital)

Red List (low evidence)

Only STR expansions are proven to be pathogenic in this gene.
Created: 23 Sep 2021, 10:42 a.m. | Last Modified: 23 Sep 2021, 10:42 a.m.
Panel Version: 1.84

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: ATXN7; Recommended initial gene rating: Green List (high evidence); Phenotypes: Spinocerebellar ataxia 7, 164500 (3); Mode of inheritance: Autosomal dominant
Created: 20 Feb 2020, 5:16 p.m. | Last Modified: 20 Feb 2020, 5:16 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 7, 164500
OMIM
607640
Clinvar variants
Variants in ATXN7
Penetrance
None
Publications
Panels with this gene