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  3. STUB1
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Early-onset Parkinson disease

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

1 review

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

Green List (high evidence)

Sources: Literature
Created: 17 Jul 2022, 1:27 p.m.

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

Phenotypes
Spinocerebellar Ataxia 48; Parkinsonism, OMIM 618093

Publications

Created: 17 Jul 2022, 1:27 p.m.

Panel version: 0.134

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar Ataxia 48, OMIM 618093
  • Parkinsonism
OMIM
607207
Clinvar variants
Variants in STUB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jul 2022, 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).

19 Jul 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: STUB1 were changed from Spinocerebellar Ataxia 48; Parkinsonism, OMIM 618093 to Spinocerebellar Ataxia 48, OMIM 618093; Parkinsonism

19 Jul 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: STUB1 were set to PubMed: 30381368; 32285148, 32337344

19 Jul 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: STUB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

19 Jul 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: STUB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

19 Jul 2022, 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).

17 Jul 2022, Gel status: 0

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

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

gene: STUB1 was added gene: STUB1 was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: STUB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: STUB1 were set to PubMed: 30381368; 32285148, 32337344 Phenotypes for gene: STUB1 were set to Spinocerebellar Ataxia 48; Parkinsonism, OMIM 618093 Review for gene: STUB1 was set to GREEN