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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

1 review

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
  • Expert Review Amber
Phenotypes
  • ciliopathy
OMIM
609544
Clinvar variants
Variants in CCP110
Penetrance
None
Panels with this gene

History Filter Activity

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