Laterality disorders and isomerism
Gene: CCDC32The 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
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: LiteratureCreated: 23 Jul 2020, 5:07 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Tag gene-checked tag was added to gene: CCDC32.
Tag watchlist tag was added to gene: CCDC32.
Gene: ccdc32 has been classified as Amber List (Moderate Evidence).
Gene: ccdc32 has been classified as Amber List (Moderate Evidence).
gene: CCDC32 was added gene: CCDC32 was added to Laterality disorders and isomerism. Sources: Literature Mode of inheritance for gene: CCDC32 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC32 were set to 32307552 Review for gene: CCDC32 was set to AMBER