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Mendeliome

Gene: ALOXE3

Green List (high evidence)

ALOXE3 (arachidonate lipoxygenase 3)
EnsemblGeneIds (GRCh38): ENSG00000179148
EnsemblGeneIds (GRCh37): ENSG00000179148
OMIM: 607206, Gene2Phenotype
ALOXE3 is in 8 panels

1 review

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

Well known disease gene for autosomal-recessive congenital ichthyosis. Reported in many more than 3 unrelated families reported. (PMIDs: 16116617, 31046801, 26370990)

Loss of enzyme activity by missense variants has been shown in transfected HEK cells (PMID:16116617).
Created: 26 May 2020, 3:12 a.m. | Last Modified: 26 May 2020, 3:12 a.m.
Panel Version: 0.2902

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ichthyosis, congenital, autosomal recessive 3, MIM#606545

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 3, MIM#606545
OMIM
607206
Clinvar variants
Variants in ALOXE3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: aloxe3 has been classified as Green List (High Evidence).

26 May 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ALOXE3 were changed from to Ichthyosis, congenital, autosomal recessive 3, MIM#606545

26 May 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ALOXE3 were set to

26 May 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ALOXE3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ALOXE3 was added gene: ALOXE3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ALOXE3 was set to Unknown