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  2. Stickler Syndrome
  3. LOXL3
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Stickler Syndrome

Gene: LOXL3

Amber List (moderate evidence)
LOXL3 (lysyl oxidase like 3)
EnsemblGeneIds (GRCh38): ENSG00000115318
EnsemblGeneIds (GRCh37): ENSG00000115318
OMIM: 607163, Gene2Phenotype
LOXL3 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated families reported with homozygous missense variants, mouse model supports gene-disease association.
Sources: Expert list
Created: 23 Jan 2020, 12:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Stickler syndrome

Publications

Created: 23 Jan 2020, 12:03 a.m.

Panel version: Imported from Stickler Syndrome and Vitreoretinopathy panel version 0.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Expert list
Phenotypes
  • Stickler syndrome
OMIM
607163
Clinvar variants
Variants in LOXL3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: loxl3 has been classified as Amber List (Moderate Evidence).

4 Mar 2020, Gel status: 2

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

Alison Yeung (Victorian Clinical Genetics Services)

gene: LOXL3 was added gene: LOXL3 was added to Stickler Syndrome. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: LOXL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LOXL3 were set to 30362103; 25663169 Phenotypes for gene: LOXL3 were set to Stickler syndrome