BRIDGE_SPEED_NEURO_v2.0_20160416
Gene: STUB1

STUB1 (STIP1 homology and U-box containing protein 1)
EnsemblGeneIds (GRCh38): ENSG00000103266
EnsemblGeneIds (GRCh37): ENSG00000103266
OMIM: 607207, Gene2Phenotype
STUB1 is in 7 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

omim_20150205_movement; neuro_20160418_strict; LOF
Created: 7 Feb 2017, 4:58 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 16, 615768

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

Created: 7 Feb 2017, 4:58 p.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

BRIDGE

Phenotypes

Spinocerebellar ataxia, autosomal recessive 16, 615768

OMIM

607207

Clinvar variants

Variants in STUB1

Penetrance

Complete

Panels with this gene

History Filter Activity

7 Feb 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

STUB1 was created by ellenmcdonagh

7 Feb 2017, Gel status: 0

Added New Source