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Skeletal dysplasia

Gene: ATXN10

Red List (low evidence)

ATXN10 (ataxin 10)
EnsemblGeneIds (GRCh38): ENSG00000130638
EnsemblGeneIds (GRCh37): ENSG00000130638
OMIM: 611150, Gene2Phenotype
ATXN10 is in 17 panels

1 review

Ellen McDonagh (Genomics England Curator)

Comment on mode of pathogenicity: Nucleotide expansion repeats have been reported for Spinocerebellar ataxia 10.
Created: 30 Nov 2016, 10:50 a.m.

History Filter Activity

30 Nov 2016, Gel status: 1

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for ATXN10 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

30 Nov 2016, Gel status: 1

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for ATXN10 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

30 Nov 2016, Gel status: 1

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for ATXN10 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

30 Nov 2016, Gel status: 1

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for ATXN10 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

30 Nov 2016, Gel status: 1

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for ATXN10 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

9 Aug 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

ATXN10 was created by sleigh

18 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

ATXN10 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory