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Severe Paediatric Disorders

Gene: ATXN10

Green List (high evidence)

ATXN10 (ataxin 10)
EnsemblGeneIds (GRCh38): ENSG00000130638
EnsemblGeneIds (GRCh37): ENSG00000130638
OMIM: 611150, Gene2Phenotype
ATXN10 is in 17 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, 10:41 a.m. | Last Modified: 23 Sep 2021, 10:41 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: ATXN10; Recommended initial gene rating: Green List (high evidence); Phenotypes: Spinocerebellar ataxia 10, 603516 (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 10, 603516
OMIM
611150
Clinvar variants
Variants in ATXN10
Penetrance
None
Publications
Panels with this gene