Hereditary ataxia

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 8 panels

2 reviews

Damian Smedley (Genomics England Curator)

Comment on list classification: Evidence from OMIM and expert reviewer
Created: 4 Feb 2016, 5:16 p.m.

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

Fine lots of evidence in lit, positives in our cohort
Created: 24 Nov 2015, 4:57 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 16

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 16
OMIM
607207
Clinvar variants
Variants in STUB1
Penetrance
Complete
Panels with this gene

History Filter Activity

24 Aug 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for STUB1 was changed to BIALLELIC, autosomal or pseudoautosomal

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

STUB1 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen