| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital Heart Defect v0.161 | CCDC22 | Zornitza Stark Marked gene: CCDC22 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.161 | CCDC22 | Zornitza Stark Gene: ccdc22 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.161 | CCDC22 | Zornitza Stark Classified gene: CCDC22 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.161 | CCDC22 | Zornitza Stark Gene: ccdc22 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.160 | CCDC22 |
Zornitza Stark gene: CCDC22 was added gene: CCDC22 was added to Congenital Heart Defect. Sources: Expert Review Mode of inheritance for gene: CCDC22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: CCDC22 were set to 21826058; 24916641; 34020006; 33059814; 31971710 Phenotypes for gene: CCDC22 were set to Ritscher-Schinzel syndrome 2, MIM# 300963 Review for gene: CCDC22 was set to GREEN Added comment: Ritscher-Schinzel syndrome-2 is an X-linked recessive syndromic form of intellectual disability associated with posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities. At least 5 unrelated families reported. Sources: Expert Review |
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