Laterality disorders and isomerism

Gene: CCDC32

Amber List (moderate evidence)

CCDC32 (coiled-coil domain containing 32)
EnsemblGeneIds (GRCh38): ENSG00000128891
EnsemblGeneIds (GRCh37): ENSG00000128891
CCDC32 is in 3 panels

1 review

Eleanor Williams (Genomics England Curator)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Tags
watchlist
Clinvar variants
Variants in CCDC32
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jul 2020, Gel status: 2

Added Tag

Eleanor Williams (Genomics England Curator)

Tag watchlist tag was added to gene: CCDC32.

23 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ccdc32 has been classified as Amber List (Moderate Evidence).

23 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ccdc32 has been classified as Amber List (Moderate Evidence).

23 Jul 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications

Eleanor Williams (Genomics England Curator)

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