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  3. STUB1
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Ataxia - adult onset

Gene: STUB1

Green List (high evidence)
STUB1 (STIP1 homology and U-box containing protein 1)
EnsemblGeneIds (GRCh38): ENSG00000103266
EnsemblGeneIds (GRCh37): ENSG00000103266
OMIM: 607207, Gene2Phenotype
STUB1 is in 9 panels

2 reviews

Teresa Zhao (Victorian Clinical Genetics Services)

Green List (high evidence)

Multiple families reported with adult onset ataxia, both frameshift and missense variants reported
Created: 6 Jul 2020, 6:28 a.m. | Last Modified: 6 Jul 2020, 6:28 a.m.
Panel Version: 0.61

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Spinocerebellar ataxia 48, MIM#618093

Publications

Created: 6 Jul 2020, 6:28 a.m.
Last Modified: 6 Jul 2020, 6:28 a.m.
Panel version: 0.61

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families reported with mono-allelic and bi-allelic disease, variable age of onset.
Sources: Expert list
Created: 16 Apr 2020, 11:49 p.m. | Last Modified: 23 Mar 2022, 10:13 a.m.
Panel Version: 0.11843

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 16, MIM# 615768; Spinocerebellar ataxia 48, MIM#618093

Publications

Created: 16 Apr 2020, 11:49 p.m.
Last Modified: 23 Mar 2022, 10:13 a.m.
Panel version: Imported from Mendeliome panel version 0.11843

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 48, MIM#618093
OMIM
607207
Clinvar variants
Variants in STUB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stub1 has been classified as Green List (High Evidence).

6 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: STUB1 were changed from Autosomal recessive spinocerebellar ataxia type 16, 615768; Spinocerebellar ataxia, autosomal recessive 16 to Spinocerebellar ataxia 48, MIM#618093

6 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: STUB1 were set to

6 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: STUB1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

19 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: STUB1 was added gene: STUB1 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: STUB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STUB1 were set to Autosomal recessive spinocerebellar ataxia type 16, 615768; Spinocerebellar ataxia, autosomal recessive 16