1. Panels
  2. Fetal anomalies
  3. LOXL2
Genes in panel
Prev Next

Fetal anomalies

Gene: LOXL2

Red List (low evidence)
LOXL2 (lysyl oxidase like 2)
EnsemblGeneIds (GRCh38): ENSG00000134013
EnsemblGeneIds (GRCh37): ENSG00000134013
OMIM: 606663, Gene2Phenotype
LOXL2 is in 1 panel

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)

Red List (low evidence)

Homozygous frameshift c.64dup p.Leu22Profs*7 in two individuals from one family with large occipital encephalocele (PMID: 37345575). No other reports.
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
cephalocele, MONDO:0017078; Encephalocele

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
  • Expert Review Red
  • NHS GMS
Phenotypes
  • cephalocele, MONDO:0017078
  • Encephalocele
OMIM
606663
Clinvar variants
Variants in LOXL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 1

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

Ida Ertmanska (Genomics England Curator)

gene: LOXL2 was added gene: LOXL2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: LOXL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LOXL2 were set to 37345575 Phenotypes for gene: LOXL2 were set to cephalocele, MONDO:0017078; Encephalocele