Cerebellar hypoplasia

Gene: STUB1

Red List (low evidence)

STUB1 (STIP1 homology and U-box containing protein 1)
EnsemblGeneIds (GRCh38): ENSG00000103266
EnsemblGeneIds (GRCh37): ENSG00000103266
OMIM: 607207, Gene2Phenotype
STUB1 is in 8 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Usually cerebellar atrophy although hypoplasia reported. Often onset teens/adulthood
Created: 16 Nov 2016, 10:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 16 615768

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 16 615768
OMIM
607207
Clinvar variants
Variants in STUB1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 0

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

22/02/2017: Panel revised after internal clinical review and further curation.

16 Nov 2016, Gel status: 0

Added New Source

Alice Gardham (Genomics England)

STUB1 was added to Cerebellar hypoplasiapanel. Sources: Literature

16 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

STUB1 was created by agardham