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Prepair 1000+

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 16 MIM#615768

Created: 4 Feb 2025, 7:42 a.m.
Last Modified: 4 Feb 2025, 7:42 a.m.
Panel version: 1.1440

Clare Hunt (Victorian Clinical Genetics Services)

STUB1, HGNC:11427. From OMIM: Autosomal recessive spinocerebellar ataxia-16 (SCAR16) is a progressive neurologic disorder characterized by truncal and limb ataxia, resulting in gait instability, associated with cerebellar atrophy on brain imaging. Most patients have onset in the teenage years, although earlier and later onset have been reported. Additional features may include dysarthria, nystagmus, hyperreflexia of the lower limbs, and mild peripheral sensory neuropathy. Some patients have gonadal dysfunction or hypogonadism and/or cognitive deficits. STUB1 encodes protein CHIP, which plays a role in regulating protein quality control (PMID:24113144).
Created: 3 Feb 2025, 5:57 a.m. | Last Modified: 3 Feb 2025, 5:57 a.m.
Panel Version: 1.1397

Phenotypes
Spinocerebellar ataxia, autosomal recessive 16 MIM#615768

Publications

Created: 3 Feb 2025, 5:57 a.m.
Last Modified: 3 Feb 2025, 5:57 a.m.
Panel version: 1.1397

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 16 MIM#615768
OMIM
607207
Clinvar variants
Variants in STUB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2025, 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).

4 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: STUB1 were changed from Spinocerebellar ataxia, autosomal recessive 16, 615768 (3) to Spinocerebellar ataxia, autosomal recessive 16 MIM#615768

4 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: STUB1 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: STUB1 was added gene: STUB1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: STUB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STUB1 were set to Spinocerebellar ataxia, autosomal recessive 16, 615768 (3)