Laterality disorders and isomerism
Gene: C1orf127

C1orf127 (chromosome 1 open reading frame 127)
EnsemblGeneIds (GRCh38): ENSG00000175262
EnsemblGeneIds (GRCh37): ENSG00000175262
C1orf127 is in 2 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #621080) and the OMIM record was last accessed on 18 December 2025.
Created: 18 Dec 2025, 10:20 p.m. | Last Modified: 18 Dec 2025, 10:20 p.m.

Panel Version: 4.9

Created: 18 Dec 2025, 10:20 p.m.
Last Modified: 18 Dec 2025, 10:20 p.m.
Panel version: 4.9

Arina Puzriakova (Genomics England Curator)

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

Added new-gene-name tag, new approved HGNC gene symbol for C1orf127 is CIROZ
Created: 1 May 2025, 9:39 a.m. | Last Modified: 1 May 2025, 9:39 a.m.

Panel Version: 4.3

Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.
Created: 1 May 2025, 9:38 a.m. | Last Modified: 1 May 2025, 9:38 a.m.

Panel Version: 4.3

PMID: 39753129 – reports 16 individuals from 10 families with biallelic LOF variants in the CIROZ gene. These individuals presented with heterotaxy, with or without complex congenital heart defects. Notably, 2 asymptomatic family members harboured biallelic LOF variants in CIROZ, suggesting variable penetrance.

Knockout mice for CIROZ exhibited situs anomalies, supporting pathogenicity. However, targeted inactivation in zebrafish and Xenopus did not lead to observable anomalies, indicating species-specific essentiality.
Created: 1 May 2025, 9:35 a.m. | Last Modified: 1 May 2025, 9:35 a.m.

Panel Version: 4.2

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Heterotaxy, visceral, 14, autosomal, OMIM:621080

Publications

39753129

Created: 1 May 2025, 9:35 a.m.
Last Modified: 1 May 2025, 9:35 a.m.
Panel version: 4.8

Julia Baptista (South East Genomic Laboratory Hub, Synnovis, King's College Hospital)

Green List (high evidence)

OMIM entry now available for this gene and condition.
The HGNC approved gene name is CIROZ

Sixteen individuals from 10 independently ascertained families with Left-right anomalies with or without Congenital Heart Defects, consistent with Heterotaxy. Family 1 is of European ancestry, and families 9 and 10 are from Central America, while all remaining families were of Middle Eastern background and known to be consanguineous.

Of these 16 affected individuals, three were affected fetuses subjected to termination of pregnancy, and two died in the first year of life due to complex cardiac phenotypes.
Sources: Literature
Created: 26 Apr 2025, 6:40 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Heterotaxy

Publications

39753129

Created: 26 Apr 2025, 6:40 p.m.

Panel version: 3.22

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Heterotaxy, visceral, 14, autosomal, OMIM:621080
heterotaxy, visceral, 14, autosomal, MONDO:0976135

Tags

new-gene-name gene-checked

Clinvar variants

Variants in C1orf127

Penetrance

None

Publications

39753129

Panels with this gene

History Filter Activity

18 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: C1orf127 were changed from Heterotaxy, visceral, 14, autosomal, OMIM:621080 to Heterotaxy, visceral, 14, autosomal, OMIM:621080; heterotaxy, visceral, 14, autosomal, MONDO:0976135

18 Dec 2025, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: C1orf127.

10 Dec 2025, Gel status: 3