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  2. Renal Ciliopathies and Nephronophthisis
  3. ATXN10
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Renal Ciliopathies and Nephronophthisis

Gene: ATXN10

Red List (low evidence)
ATXN10 (ataxin 10)
EnsemblGeneIds (GRCh38): ENSG00000130638
EnsemblGeneIds (GRCh37): ENSG00000130638
OMIM: 611150, Gene2Phenotype
ATXN10 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported, circumstantial evidence only.
Created: 30 Dec 2019, 10:37 p.m. | Last Modified: 30 Dec 2019, 10:37 p.m.
Panel Version: 0.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephronophthisis

Publications

Created: 30 Dec 2019, 10:37 p.m.
Last Modified: 30 Dec 2019, 10:37 p.m.
Panel version: 0.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Nephronophthisis
OMIM
611150
Clinvar variants
Variants in ATXN10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atxn10 has been classified as Red List (Low Evidence).

30 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ATXN10 were changed from to Nephronophthisis

30 Dec 2019, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ATXN10 were set to

30 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ATXN10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

30 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atxn10 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ATXN10 was added gene: ATXN10 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: ATXN10 was set to Unknown