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Fetal anomalies

Gene: ALOXE3

Red List (low evidence)

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

2 reviews

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

Congenital autosomal recessive ichthyosis disorder not presenting antenatally. Not suitable for fetal anomalies panel.
Created: 13 Jan 2022, 6:23 a.m. | Last Modified: 13 Jan 2022, 6:23 a.m.
Panel Version: 0.2016

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Well established gene-disease association. Can present as collodion baby but uncertain if this is detectable antenatally.
Created: 30 Nov 2021, 1:38 a.m. | Last Modified: 30 Nov 2021, 1:38 a.m.
Panel Version: 0.836

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
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

13 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: aloxe3 has been classified as Red List (Low Evidence).

30 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: aloxe3 has been classified as Amber List (Moderate Evidence).

30 Nov 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

30 Nov 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ALOXE3 were set to

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ALOXE3 was added gene: ALOXE3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALOXE3 were set to Ichthyosis, congenital, autosomal recessive 3, 606545