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| Rare multisystem ciliopathy disorders v1.168 | CCDC32 | Achchuthan Shanmugasundram changed review comment from: The OMIM entry for this gene is OMIM:619219, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.; to: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders v1.168 | CCDC32 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: CCDC32. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders v1.168 | CCDC32 | Achchuthan Shanmugasundram commented on gene: CCDC32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders v1.163 | CCDC32 | Sarah Leigh reviewed gene: CCDC32: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders v1.163 | CCDC32 | Sarah Leigh Classified gene: CCDC32 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders v1.163 | CCDC32 | Sarah Leigh Gene: ccdc32 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders v1.162 | CCDC32 | Sarah Leigh Phenotypes for gene: CCDC32 were changed from Craniofacial, cardiac, laterality and neurodevelopmental anomalies to Cardiofacioneurodevelopmental syndrome, OMIM:619123; cardiofacioneurodevelopmental syndrome, MONDO:0030873 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders v1.161 | CCDC32 | Sarah Leigh Publications for gene: CCDC32 were set to 32307552 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders v1.125 | CCDC32 |
Zornitza Stark 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 Added comment: 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 |
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