BRIDGE_SPEED_NEURO_20170705
Gene: LOXHD1

LOXHD1 (lipoxygenase homology domains 1)
EnsemblGeneIds (GRCh38): ENSG00000167210
EnsemblGeneIds (GRCh37): ENSG00000167210
OMIM: 613072, Gene2Phenotype
LOXHD1 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_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : Loss of function; All missense/in frame
Created: 28 Jul 2017, 9:34 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

25529582

Created: 2 Aug 2017, 4:42 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

Deafness, autosomal recessive 77, 613079

OMIM

613072

Clinvar variants

Variants in LOXHD1

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

LOXHD1 was created by LouiseD

27 Jul 2017, Gel status: 4

Added New Source