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Skeletal dysplasia

Gene: LOXL3

Red List (low evidence)

LOXL3 (lysyl oxidase like 3)
EnsemblGeneIds (GRCh38): ENSG00000115318
EnsemblGeneIds (GRCh37): ENSG00000115318
OMIM: 607163, Gene2Phenotype
LOXL3 is in 2 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Not ssociated with phenotype in OMIM nor G2P. One variant reported in biallelic Stickler syndrome
Created: 1 Aug 2016, 11:45 a.m.


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Red
  • Expert Review
  • Stickler syndrome
Clinvar variants
Variants in LOXL3
Panels with this gene

History Filter Activity

9 Aug 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

1 Aug 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

1 Aug 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for LOXL3 was changed to BIALLELIC, autosomal or pseudoautosomal

18 May 2016, Gel status: 0


Sarah Leigh (Genomics England Curator)

LOXL3 was created by sleigh

18 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

LOXL3 was added to Unexplained skeletal dysplasiapanel. Sources: Expert Review,Expert Review Red