CIROP

ciliated left-right organizer metallopeptidase

Basic information

Region (hg38): 14:23099062-23104989

Previous symbols: [ "LMLN2" ]

Links

ENSG00000283654 ∙ NCBI:100128908 ∙ OMIM:619703 ∙ HGNC:53647 ∙ Uniprot:A0A1B0GTW7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Heterotaxy, visceral, 12, autosomal	AR	Cardiovascular	The condition may involve congenital cardiac anomalies, and awareness may allow early diagnosis and interventions	Cardiovascular; Gastrointestinal	34903892

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CIROP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CIROP gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			2	2		4
nonsense			1			1
start loss						0
frameshift		1				1
inframe indel				1		1
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	1	3	5	0

Variants in CIROP

This is a list of pathogenic ClinVar variants found in the CIROP region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
14-23100669-A-C		CIROP-related disorder	Likely benign (Jan 05, 2023)
14-23101851-CAGA-C		Heterotaxy, visceral, 12, autosomal	Pathogenic (Mar 15, 2022)
14-23101889-C-CA		Heterotaxy, visceral, 12, autosomal	Likely pathogenic (Dec 12, 2022)
14-23102120-G-A			Likely benign (Jun 01, 2023)
14-23102168-G-A			Likely benign (Sep 01, 2022)
14-23102235-C-A		Heterotaxy, visceral, 12, autosomal	Pathogenic (Mar 15, 2022)
14-23102250-G-A		Heterotaxy, visceral, 12, autosomal	Pathogenic (Mar 15, 2022)
14-23102441-C-T		Heterotaxy, visceral, 12, autosomal	Pathogenic (Jun 17, 2022)
14-23103707-G-A		Heterotaxy, visceral, 12, autosomal	Pathogenic (Mar 15, 2022)
14-23103740-C-G		Heterotaxy, visceral, 12, autosomal	Uncertain significance (Dec 12, 2022)
14-23104718-T-C		Heterotaxy, visceral, 12, autosomal	Uncertain significance (Aug 09, 2023)
14-23104829-G-A		Heterotaxy, visceral, 12, autosomal • CIROP-related disorder	Conflicting classifications of pathogenicity (Feb 28, 2023)
14-23104857-G-A		Heterotaxy, visceral, 12, autosomal	Uncertain significance (Jul 24, 2022)
14-23104882-T-TGGC			Likely benign (Jul 01, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Metalloprotease. {ECO:0000250|UniProtKB:Q9VH19}.

Mouse Genome Informatics

• Gene name: Gm29776

Gene ontology

• Biological process: proteolysis;cell adhesion
• Cellular component: cytoplasm;integral component of membrane
• Molecular function: metalloendopeptidase activity;peptidase activity;metal ion binding