BRIDGE_SPEED_NEURO_20170705
Gene: SPTBN2

SPTBN2 (spectrin beta, non-erythrocytic 2)
EnsemblGeneIds (GRCh38): ENSG00000173898
EnsemblGeneIds (GRCh37): ENSG00000173898
OMIM: 604985, Gene2Phenotype
SPTBN2 is in 11 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_omim_20150205_movement . Main mutation mechanism : NA
Created: 28 Jul 2017, 10:49 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

omim.org

Created: 2 Aug 2017, 7:28 p.m.

Panel version: 0.191

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

BRIDGE study SPEED NEURO Tier1 Gene
Expert Review Green

Phenotypes

Spinocerebellar ataxia 5, 600224
Spinocerebellar ataxia, autosomal recessive 14, 615386

OMIM

604985

Clinvar variants

Variants in SPTBN2

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

SPTBN2 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created