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 2 panels

2 reviews

Caroline Wright (Genomics England Curator)

Comment on list classification: Publication relates to mutations in mice.
Created: 17 Dec 2015, 1:13 p.m.

allan richards (University of Cambridge)

I don't know

1 published example
Created: 16 Oct 2015, 1:39 p.m.

Phenotypes
Stickler syndrome

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Stickler syndrome, MONDO:0019354
OMIM
607163
Clinvar variants
Variants in LOXL3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: LOXL3 were changed from Stickler syndrome to Stickler syndrome, MONDO:0019354

5 Apr 2019, Gel status: 2

Entity classified by Genomics England curator

Anna de Burca (Genomics England Curator)

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

17 Dec 2015, Gel status: 1

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

17 Dec 2015, Gel status: 1

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

16 Oct 2015, Gel status: 0

Added New Source

allan richards (University of Cambridge)

LOXL3 was added to Stickler syndromepanel. Sources: Expert Review