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  3. LOXL3
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Fetal anomalies

Gene: LOXL3

Amber List (moderate evidence)
LOXL3 (lysyl oxidase like 3)
EnsemblGeneIds (GRCh38): ENSG00000115318
EnsemblGeneIds (GRCh37): ENSG00000115318
OMIM: 607163, Gene2Phenotype
LOXL3 is in 6 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

I don't know

Not currently green on any panel but tagged for upgrade to green on Stickler, hearing loss, clefting and retinal disorder panels by Genomics England curators. Biallelic variants associated with spectrum of phenotypes from isolated high myopia to Stickler syndrome. Green on Australian fetal anomalies panel.25663169: Two sibs with AR Stickler syndrome and homozygous p.(Cys676Tyr).26957899: Two probands with high myopia, one homozygous c.39dup; p.L14Afs*21, one compound het c.39dup; p.L14Afs*21 and c.594delG; p.Q199Kfs*35.30362103: Homozygous c.1036C>T (p.Arg346Trp) in child and father both with Stickler syndrome.34787502: Homozygous c.653G>C (p.Arg579Pro) in one proband with Pierre Robin sequence.38957076: Homozygous c.1448_1449del, p.(Thr483Argfs*13) due to paternal UPD in a proband with reduced visual acuity in both eyes, bilateral vitreous syneresis, foveal hypoplasia and bilateral high myopia. Skeletal survey showed spondylo-epi-metaphyseal dysplasia41052910: Likely pathogenic variant c.1735C>T and a variant of uncertain significance c.956G>A in a patient with polyhydramnios, Pierre Robin sequence, high myopia and bilateral conductive hearing loss. Two affected sisters with same variants.Mouse models: Knockout mouse and c.2027G_>_A, p.Cys676Trp mutant show perinatal lethality, cleft palate and spinal deformity (26307084, 36610533).
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Stickler syndrome, MONDO:0019354

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Stickler syndrome, MONDO:0019354
OMIM
607163
Clinvar variants
Variants in LOXL3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

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

Ida Ertmanska (Genomics England Curator)

gene: LOXL3 was added gene: LOXL3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: LOXL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LOXL3 were set to 34787502; 30362103; 36610533; 26307084; 41052910; 38957076; 26957899; 25663169 Phenotypes for gene: LOXL3 were set to Stickler syndrome, MONDO:0019354