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  3. CCDC32
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Ciliopathies

Gene: CCDC32

Green List (high evidence)
CCDC32 (coiled-coil domain containing 32)
EnsemblGeneIds (GRCh38): ENSG00000128891
EnsemblGeneIds (GRCh37): ENSG00000128891
CCDC32 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two unrelated consanguineous families with probands with homozygous frameshift variants reported. Phenotype is a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies. Functional studies in zebrafish show that ccdc32 depletion impairs cilia formation and shows a role for ccdc32 in craniofacial, brain and left/right axis development.
Sources: Literature
Created: 2 Jul 2020, 10:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cardiofacioneurodevelopmental syndrome (CFNDS), MIM#619123; Craniofacial, cardiac, laterality and neurodevelopmental anomalies

Publications

Created: 2 Jul 2020, 10:30 p.m.

Panel version: 0.218

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cardiofacioneurodevelopmental syndrome (CFNDS), MIM#619123
  • Craniofacial, cardiac, laterality and neurodevelopmental anomalies
Clinvar variants
Variants in CCDC32
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CCDC32 were changed from Cardiofacioneurodevelopmental syndrome (CFNDS), MIM#619123; Craniofacial, cardiac, laterality and neurodevelopmental anomalies to Cardiofacioneurodevelopmental syndrome (CFNDS), MIM#619123; Craniofacial, cardiac, laterality and neurodevelopmental anomalies

10 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CCDC32 were changed from Craniofacial, cardiac, laterality and neurodevelopmental anomalies to Cardiofacioneurodevelopmental syndrome (CFNDS), MIM#619123; Craniofacial, cardiac, laterality and neurodevelopmental anomalies

2 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ccdc32 has been classified as Green List (High Evidence).

2 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ccdc32 has been classified as Green List (High Evidence).

2 Jul 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CCDC32 was added gene: CCDC32 was added to Ciliopathies. Sources: Literature Mode of inheritance for gene: CCDC32 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC32 were set to 32307552 Phenotypes for gene: CCDC32 were set to Craniofacial, cardiac, laterality and neurodevelopmental anomalies Review for gene: CCDC32 was set to GREEN