BRIDGE_SPEED_NEURO_20170705
Gene: EFHC1

EFHC1 (EF-hand domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000096093
EnsemblGeneIds (GRCh37): ENSG00000096093
OMIM: 608815, Gene2Phenotype
EFHC1 is in 2 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_epilepsies . Main mutation mechanism : NA
Created: 28 Jul 2017, 9:04 a.m.

Mode of inheritance
Unknown

Publications

omim.org

Created: 2 Aug 2017, 2:45 p.m.

Panel version: 0.191

Details

Mode of Inheritance

Unknown

Sources

Expert Review Green
BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

{Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770
{Epilepsy, juvenile absence, susceptibility to, 1}, 607631

OMIM

608815

Clinvar variants

Variants in EFHC1

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

EFHC1 was created by LouiseD

27 Jul 2017, Gel status: 4

Added New Source