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Prepair 1000+

Gene: ALOXE3

Green List (high evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Initial presentation is often severe with 'collodion baby'
Created: 25 Jul 2024, 4:22 a.m. | Last Modified: 25 Jul 2024, 4:22 a.m.
Panel Version: 1.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Lucy Spencer (Victorian Clinical Genetics Services)

Green List (high evidence)

Discussed 25/07/24- this can be a very severe form of ichthyosis, should be green and remain on this panel
Created: 25 Jul 2024, 2:34 a.m. | Last Modified: 25 Jul 2024, 2:34 a.m.
Panel Version: 1.43
HGNC approved symbol/name: ALOXE3

Is the phenotype(s) severe and onset <18yo ? Yes early onset; babyscreen review notes its congenital onset. However this gene causes ichthyosis and OMIM says "Affected individuals have a relatively mild ichthyosis phenotype". Im not sure its severe enough to include here.

Treatments available: No specific treatment available (from babyscreen)
Created: 19 Jul 2024, 6:37 a.m. | Last Modified: 25 Jul 2024, 2:33 a.m.
Panel Version: 1.43

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 3 (MIM#606545)
OMIM
607206
Clinvar variants
Variants in ALOXE3
Penetrance
None
Panels with this gene

History Filter Activity

25 Jul 2024, 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).

25 Jul 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Jun 2022, Gel status: 3

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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green 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 (3)