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Prepair 1000+

Gene: LOXHD1

Red List (low evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Deafness genes are not currently part of the reproductive carrier screening panel.
Created: 28 Jul 2022, 8:11 a.m. | Last Modified: 28 Jul 2022, 8:11 a.m.
Panel Version: 0.89

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 77 (MIM#613079)

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Well established gene disease association with non-syndromic hearing loss.
Sources: Literature
Created: 26 Jul 2022, 1:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 77 (MIM#613079)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Deafness, autosomal recessive 77 (MIM#613079)
OMIM
613072
Clinvar variants
Variants in LOXHD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jul 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: loxhd1 has been classified as Red List (Low Evidence).

28 Jul 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: loxhd1 has been classified as Red List (Low Evidence).

26 Jul 2022, Gel status: 0

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

Crystle Lee (Victorian Clinical Genetics Services)

gene: LOXHD1 was added gene: LOXHD1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: LOXHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LOXHD1 were set to 31547530 Phenotypes for gene: LOXHD1 were set to Deafness, autosomal recessive 77 (MIM#613079) Review for gene: LOXHD1 was set to AMBER