Laterality disorders and isomerism

Gene: CCDC32

The OMIM entry for this gene is OMIM:618941, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.

Created: 16 Oct 2023, 7:08 p.m. | Last Modified: 16 Oct 2023, 8:24 p.m.

Panel Version: 3.4

I don't know

Comment on list classification: Rating amber as 2 cases plus some functional evidence. Rating agreed with Genomics England clinical team.

Created: 23 Jul 2020, 5:08 p.m. | Last Modified: 23 Jul 2020, 5:08 p.m.

Panel Version: 1.8

PMID: 32307552 - Harel et al 2020 - report 2 unrelated consanguineous families with probands with homozygous frameshift variants in CCDC32. Parents are heterozygous. Phenotype is a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies.

The child in family 1 presented with cleft lip and palate, atrioventricular (AV) canal defect and abdominal situs inversus with asplenia, borderline microcephaly, hypotelorism, upslanting palpebral fissures, a stiff upper lip, missing teeth attributed to the clefting, vaulted palate with cleft, prominent ears, underdeveloped helices and micrognathia. The child in family 2 presented bilateral cleft lip, cleft palate, ventricular septal defect and pulmonary valve stenosis, Microcephaly (Z score−2.5), brachydactyly, hypertelorism, epicanthal folds, broad nasal root, a prominent large nose and malformed protruded ears.

Functional studies in zebrafish show that ccdc32 depletion impairs cilia formation and demonstrate a contribution of ccdc32 in craniofacial, brain and left/right axis development.
Sources: Literature

Created: 23 Jul 2020, 5:07 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 32307552