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  3. LOXHD1
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Deafness_Isolated

Gene: LOXHD1

Green List (high evidence)
LOXHD1 (lipoxygenase homology domains 1)
EnsemblGeneIds (GRCh38): ENSG00000167210
EnsemblGeneIds (GRCh37): ENSG00000167210
OMIM: 613072, Gene2Phenotype
LOXHD1 is in 6 panels

1 review

Melanie Marty (Victorian Clinical Genetics Services)

Green List (high evidence)

Established gene disease association
Created: 3 Mar 2020, 12:31 a.m. | Last Modified: 3 Mar 2020, 12:31 a.m.
Panel Version: 0.325

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 77 613079

Publications

Created: 3 Mar 2020, 12:31 a.m.
Last Modified: 3 Mar 2020, 12:31 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.325

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
Phenotypes
  • Deafness, autosomal recessive 77, MIM# 613079
OMIM
613072
Clinvar variants
Variants in LOXHD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: loxhd1 has been classified as Green List (High Evidence).

21 Jul 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LOXHD1 was added gene: LOXHD1 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LOXHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LOXHD1 were set to 19732867; 25792669 Phenotypes for gene: LOXHD1 were set to Deafness, autosomal recessive 77, MIM# 613079