Fetal anomalies
Gene: AL117258.1

AL117258.1 (leishmanolysin like peptidase 2)
EnsemblGeneIds (GRCh38): ENSG00000283654
AL117258.1 is in 2 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 25 Feb 2025, 11:15 a.m. | Last Modified: 25 Feb 2025, 11:15 a.m.

Panel Version: 5.78

The 'new-gene-name' tag has been added as the HGNC approved symbol for this gene is CIROP. This gene was known by the previous symbol LMLN2.
Created: 20 Feb 2025, 9:48 p.m. | Last Modified: 31 Mar 2025, 10:12 a.m.

Panel Version: 5.87

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.

Panel Version: 5.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 31 Mar 2025, 10:12 a.m.
Panel version: 5.78

Elizabeth Scotchman (North Thames Genomic Laboratory Hub)

Green List (high evidence)

HGNC approved symbol for this gene is CIROP. Green on Australian fetal anomalies, congenital heart defect and heterotaxy panels. PMID 34903892 reported 21 patients from 12 unrelated families with a range of situs abnormalities usually accompanied by congenital heart defects. Of the 21 patients, 8 had situs solitus with or without isolated dextrocardia, 5 had situs ambiguus, and 8 had situs inversus totalis. Intrafamilial variability was observed regarding situs abnormalities, dextrocardia, and congenital heart defects. Variants were homozygous in all but one: missense, single residue del and PTC.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.

Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Heterotaxy, visceral, 12, autosomal, MIM#619702

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Heterotaxy, visceral, 12, autosomal, OMIM:619702

Tags

new-gene-name gene-checked

Clinvar variants

Variants in AL117258.1

Penetrance

None

Publications

Panels with this gene