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Fetal anomalies

Gene: CCDC32

Green List (high evidence)
CCDC32 (coiled-coil domain containing 32)
EnsemblGeneIds (GRCh38): ENSG00000128891
EnsemblGeneIds (GRCh37): ENSG00000128891
CCDC32 is in 5 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
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
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Natalie Chandler (North Thames GLH)

Green List (high evidence)

Green on ciliopathy panel, amber on laterality. 3 patients and zebrafish.2 frameshift one large deletion. PMID 35451546 Bilateral cleft lip and palate, 1x hypoplastic CC, hypertelorism, upslanting palpebral fissures, a wide and prominent nasal ridge with depressed nasal tip. mitral valve prolapse. PMID 32307552 2 sibs 1 cleft, brain MRI hypoplastic cerebellar tonsils atrioventricular canal defect, and abdominal situs inversus with asplenia, macial dysmorphism, sib fetus bilateral cleft lip, vermian hypoplasia, hypoplastic pons, and abnormal cisterna magna, and the pregnancy was terminated. 3rd case bilateral cleft lip, cleft palate, ventricular septal defect, and pulmonary valve stenosis. 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
Cardiofacioneurodevelopmental syndrome, OMIM:619123

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cardiofacioneurodevelopmental syndrome, OMIM:619123
Tags
gene-checked
Clinvar variants
Variants in CCDC32
Penetrance
None
Panels with this gene

History Filter Activity

19 Mar 2026, Gel status: 3

Added Tag

Ida Ertmanska (Genomics England Curator)

Tag gene-checked tag was added to gene: CCDC32.

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Cardiofacioneurodevelopmental syndrome, OMIM:619123 for gene: CCDC32

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: CCDC32 was added gene: CCDC32 was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: CCDC32 was set to BIALLELIC, autosomal or pseudoautosomal