Intellectual disability update Jan 2018
Gene: LOXHD1

LOXHD1 (lipoxygenase homology domains 1)
EnsemblGeneIds (GRCh38): ENSG00000167210
EnsemblGeneIds (GRCh37): ENSG00000167210
OMIM: 613072, Gene2Phenotype
LOXHD1 is in 2 panels

1 review

Eleanor Williams (Genomics England Curator)

Comment on list classification: Associated with Deafness, autosomal recessive 77 (MIM:613079) in OMIM but no evidence found of association with Intellectual Disability in OMIM, Gene2Phenotype or PubMed searches.
Created: 21 Feb 2018, 10:30 p.m.

Created: 21 Feb 2018, 10:30 p.m.

Panel version: 0.73

Details

Sources

Expert Review Red
BRIDGE study SPEED NEURO Tier1 Gene

OMIM

613072

Clinvar variants

Variants in LOXHD1

Penetrance

None

Panels with this gene

History Filter Activity

21 Feb 2018, Gel status: 1

Gene classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

18 Dec 2017, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

LOXHD1 was added to Intellectual disability update Jan 2018 panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Amber