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  3. CCP110
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Fetal anomalies

Gene: CCP110

Amber List (moderate evidence)
CCP110 (centriolar coiled-coil protein 110)
EnsemblGeneIds (GRCh38): ENSG00000103540
EnsemblGeneIds (GRCh37): ENSG00000103540
OMIM: 609544, Gene2Phenotype
CCP110 is in 1 panel

3 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Sunayna Best (Leeds Teaching Hospitals NHS Trust)

I don't know

Suzuki et al 2024 (PMID:38857829): 1 7M human male with compound heterozygous CCP110 variants. Growth failure and skeletal abnormalities, including a narrow thorax and severe brachydactyly. RNA studies for proband and mother supportive of pathogenicity, father not available for functional testing. Reference mouse studies generating knockouts that show ciliopathy like phenotype: manifest multiple organ defects, including a small body size, polydactyly, omphalocele, congenital heart defects, cleft palate, short ribs, and a small thoracic cage (Yadav et al, 2016, PMID: 26965371). CONCLUSION: 1 clinical case and limited functional evidence. Can't make green yet but watch and wait literature.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ciliopathy, MONDO:0005308

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Arina Puzriakova (Genomics England Curator)

I don't know

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. 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, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
This review was added on behalf of Dr Tazeen Ashraf (GOSH): 38857829 - Case reported with short rib thoracic dysplasia - although this case was diagnosed postnatally, the phenotype is consistent with other ciliopathy disorders and the expectation would be that short long bones and short ribs +/- other variable features may be detectable on antenatal USS. Gene is currnetly not on panel app and is there is minimal literature about this gene therefore possibly needs further review of evidence. Suggest Amber as one case report insufficient for Green.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ciliopathy

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.148

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • ciliopathy
  • ciliopathy, MONDO:0005308
OMIM
609544
Clinvar variants
Variants in CCP110
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

Added New Source, Set Phenotypes, Set publications

Ida Ertmanska (Genomics England Curator)

Source NHS GMS was added to CCP110. Added phenotypes ciliopathy, MONDO:0005308 for gene: CCP110 Publications for gene: CCP110 were updated from to 26965371; 38857829

10 Mar 2026, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes ciliopathy for gene: CCP110

9 Mar 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: CCP110 was added gene: CCP110 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: CCP110 was set to BIALLELIC, autosomal or pseudoautosomal