Rare multisystem ciliopathy disorders
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, 7:09 p.m. | Last Modified: 16 Oct 2023, 8:25 p.m.
Panel Version: 1.168
Associated with relevant phenotype in OMIM and as strong Gen2Phen gene for CCDC32-associated neurodevelopmental syndrome. At least three variants have been reported in three unrelated cases (PMIDS: 32307552 & 35451546), together with supportive functional studies.Created: 25 Aug 2022, 3:10 p.m. | Last Modified: 25 Aug 2022, 3:10 p.m.
Panel Version: 1.163
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: LiteratureCreated: 6 Jul 2020, 7:29 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Craniofacial, cardiac, laterality and neurodevelopmental anomalies
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag gene-checked tag was added to gene: CCDC32.
Gene: ccdc32 has been classified as Green List (High Evidence).
Phenotypes for gene: CCDC32 were changed from Craniofacial, cardiac, laterality and neurodevelopmental anomalies to Cardiofacioneurodevelopmental syndrome, OMIM:619123; cardiofacioneurodevelopmental syndrome, MONDO:0030873
Publications for gene: CCDC32 were set to 32307552
gene: CCDC32 was added gene: CCDC32 was added to Rare multisystem ciliopathy disorders. 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 gene: CCDC32 was marked as current diagnostic