| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Heterotaxy v0.41 | CFAP53 | Zornitza Stark Marked gene: CFAP53 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v0.41 | CFAP53 | Zornitza Stark Gene: cfap53 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v0.41 | CFAP53 | Zornitza Stark Classified gene: CFAP53 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v0.41 | CFAP53 | Zornitza Stark Gene: cfap53 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v0.40 | CFAP53 |
Elena Savva gene: CFAP53 was added gene: CFAP53 was added to Heterotaxy. Sources: Literature Mode of inheritance for gene: CFAP53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CFAP53 were set to PMID:28621423; 22577226; 26531781 Phenotypes for gene: CFAP53 were set to Heterotaxy, visceral, 6, autosomal recessive 614779 Review for gene: CFAP53 was set to GREEN Added comment: aka CCDC11 PMID: 22577226 - 2 siblings with a homozygous splice variant. One sibling had situs invertus syndrome and the other heterotaxy. One sibling far less severely affected. Patients had normal beating cilia, no respiratory issues PMID: 28621423 - no new patients, performs functional studies on patient cells from ^, and frog animal models. Assays demonstrate mislocalized protein, increased cilia length in patient samples, while animal models showed CFAP53/CCDC11 is important for left-right patterning. PMID: 26531781 - 1 patient with a homozygous PTC with situs inversus. Respiratory function was described as normal. Zebrafish model recapitulates the human phenotype. Summary: 2 patients described with situs invertus/heterotaxy + animal models Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||