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  3. ALOX12B
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Ichthyosis

Gene: ALOX12B

Green List (high evidence)
ALOX12B (arachidonate 12-lipoxygenase, 12R type)
EnsemblGeneIds (GRCh38): ENSG00000179477
EnsemblGeneIds (GRCh37): ENSG00000179477
OMIM: 603741, Gene2Phenotype
ALOX12B is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 19 Jan 2021, 10:33 a.m. | Last Modified: 19 Jan 2021, 10:33 a.m.
Panel Version: 0.102

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ichthyosis, congenital, autosomal recessive 2, MIM# 242100

Publications

Created: 19 Jan 2021, 10:33 a.m.
Last Modified: 19 Jan 2021, 10:33 a.m.
Panel version: 1.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 2, MIM# 242100
OMIM
603741
Clinvar variants
Variants in ALOX12B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alox12b has been classified as Green List (High Evidence).

19 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ALOX12B were changed from to Ichthyosis, congenital, autosomal recessive 2, MIM# 242100

19 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ALOX12B were set to

19 Jan 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ALOX12B 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: ALOX12B was added gene: ALOX12B was added to Ichthyosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ALOX12B was set to Unknown