Laterality disorders and isomerism

Gene: AL117258.1

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 10 Dec 2025, 6:03 p.m. | Last Modified: 10 Dec 2025, 6:03 p.m.

Panel Version: 4.8

Green List (high evidence)

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: 16 Apr 2025, 5:06 p.m. | Last Modified: 16 Apr 2025, 5:06 p.m.

Panel Version: 3.22

Comment on list classification: There is sufficient evidence available (13 unrelated families) for the promotion of this gene to green rating in the next GMS update.

Created: 15 Apr 2025, 7:13 p.m. | Last Modified: 15 Apr 2025, 7:13 p.m.

Panel Version: 3.22

PMID:34903892 reported the identification of biallelic variants (either homozygous or compound heterozygous ) in the CIROP gene in 21 patients from 12 unrelated families of different geographic origin with congenital heterotaxy. There were a total of nine variants identified in these patients - 5 missense, 2 nonsense, a frameshift, and a small in-frame deletion. The disorder is characterised by defects in the asymmetric positioning of visceral organs across the left-right axis, known as laterality defects. Functional studies performed on Zebrafish and Xenopus knockout models replicated the heterotaxy phenotype. They also showed that CIROP was essential for left side symmetry and is expressed in ciliated left–right organisers.

PMID:39513328 reported a cohort of 24 patients with heterotaxy from 19 unrelated families, of which two patients from a family were identified with homozygous missense CIROP variant.

This gene has been associated with relevant phenotypes in OMIM (MIM #619702), but not in Gene2Phenotype.
Sources: Literature

Created: 15 Apr 2025, 7:11 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Heterotaxy, visceral, 12, autosomal, OMIM:619702

Publications

• 34903892
• 39513328