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Mendeliome

Gene: LOX

Green List (high evidence)

LOX (lysyl oxidase)
EnsemblGeneIds (GRCh38): ENSG00000113083
EnsemblGeneIds (GRCh37): ENSG00000113083
OMIM: 153455, Gene2Phenotype
LOX is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Gene-disease association with aortic aneurysm rated as strong by ClinGen.
Created: 15 Aug 2020, 3:57 a.m. | Last Modified: 15 Aug 2020, 3:57 a.m.
Panel Version: 0.3775

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Aortic aneurysm, familial thoracic 10, MIM# 617168

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Aortic aneurysm, familial thoracic 10, MIM# 617168
OMIM
153455
Clinvar variants
Variants in LOX
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LOX were changed from to Aortic aneurysm, familial thoracic 10, MIM# 617168

15 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LOX were set to

15 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LOX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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