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Fetal anomalies

Gene: C1orf127

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

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

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, 10:22 p.m. | Last Modified: 18 Dec 2025, 10:22 p.m.
Panel Version: 6.129
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: 12 Dec 2025, 3:10 p.m. | Last Modified: 12 Dec 2025, 3:10 p.m.
Panel Version: 6.120
Created: 12 Dec 2025, 3:10 p.m.
Last Modified: 12 Dec 2025, 3:10 p.m.
Panel version: 6.120

Elizabeth Scotchman (North Thames Genomic Laboratory Hub)

Green List (high evidence)

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
New approved HGNC gene symbol is CIROZ. Green on Australian fetal anomalies panel. PMID 39753129: 16 individuals from 10 families with bi-allelic variants, which cause heterotaxy with congenital heart defects. 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. 2 asymptomatic family members harboured biallelic LOF variants suggesting variable penetrance. Knockout mice showed situs anomalies. Targeted inactivation in zebrafish and xenopus does not lead to observable LR anomalies. CIROZ is absent or obsolete in select animals with motile cilia at their LRO, including Carnivora, Atherinomorpha fish, or jawless vertebrates.
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Heterotaxy, visceral, 14, autosomal

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
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: 6.4
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: 6.4
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, 9:36 a.m. | Last Modified: 1 May 2025, 9:36 a.m.
Panel Version: 6.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 1 May 2025, 9:36 a.m.
Last Modified: 1 May 2025, 9:36 a.m.
Panel version: 6.29

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, 6:45 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Heterotaxy

Publications

Created: 26 Apr 2025, 6:45 p.m.

Panel version: 5.96

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
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
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.

16 Dec 2025, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_25_ promote_green was removed from gene: C1orf127. Tag Q2_25_ NHS_review was removed from gene: C1orf127.

12 Dec 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to C1orf127. Source NHS GMS was added to C1orf127. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

8 Sep 2025, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

5 Sep 2025, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Heterotaxy, visceral, 14, autosomal for gene: C1orf127

1 May 2025, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag new-gene-name tag was added to gene: C1orf127.

1 May 2025, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: c1orf127 has been classified as Amber List (Moderate Evidence).

1 May 2025, Gel status: 0

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_25_ promote_green tag was added to gene: C1orf127. Tag Q2_25_ NHS_review tag was added to gene: C1orf127.

1 May 2025, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

26 Apr 2025, Gel status: 0

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

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

gene: C1orf127 was added gene: C1orf127 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: C1orf127 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C1orf127 were set to 39753129 Phenotypes for gene: C1orf127 were set to Heterotaxy Review for gene: C1orf127 was set to GREEN