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STRs in panel
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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 8 panels

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Details

Sources
  • Emory Genetics Laboratory
OMIM
611150
Clinvar variants
Variants in ATXN10
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ATXN10 was added gene: ATXN10 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory Mode of inheritance for gene: ATXN10 was set to Mode of pathogenicity for gene: ATXN10 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments