BRIDGE_SPEED_NEURO_20170705
Gene: TTPA

TTPA (alpha tocopherol transfer protein)
EnsemblGeneIds (GRCh38): ENSG00000137561
EnsemblGeneIds (GRCh37): ENSG00000137561
OMIM: 600415, Gene2Phenotype
TTPA 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, 10:56 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

omim.org

Created: 2 Aug 2017, 8:04 p.m.

Panel version: 0.191

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

Ataxia with isolated vitamin E deficiency, 277460

OMIM

600415

Clinvar variants

Variants in TTPA

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

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

27 Jul 2017, Gel status: 0

Created