BRIDGE_SPEED_NEURO_20170705
Gene: TMEM240

TMEM240 (transmembrane protein 240)
EnsemblGeneIds (GRCh38): ENSG00000205090
EnsemblGeneIds (GRCh37): ENSG00000205090
OMIM: 616101, Gene2Phenotype
TMEM240 is in 7 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, 10:54 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

omim.org

Created: 2 Aug 2017, 7:53 p.m.

Panel version: 0.191

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

Spinocerebellar ataxia 21, 607454

OMIM

616101

Clinvar variants

Variants in TMEM240

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

TMEM240 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created