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| Ciliary Dyskinesia v0.44 | C11orf70 | Zornitza Stark Tag new gene name tag was added to gene: C11orf70. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.44 | C11orf70 | Zornitza Stark Marked gene: C11orf70 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.44 | C11orf70 | Zornitza Stark Gene: c11orf70 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.44 | C11orf70 | Zornitza Stark Classified gene: C11orf70 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.44 | C11orf70 | Zornitza Stark Gene: c11orf70 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.40 | C11orf70 |
Elena Savva gene: C11orf70 was added gene: C11orf70 was added to Ciliary Dyskinesia. Sources: Expert list Mode of inheritance for gene: C11orf70 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C11orf70 were set to PMID: 29727693; 29727692 Phenotypes for gene: C11orf70 were set to Ciliary dyskinesia, primary, 38 618063 Review for gene: C11orf70 was set to GREEN Added comment: aka CFAP300 OMIM: CFAP300 is an evolutionarily conserved protein essential for assembly of dynein arms. PMID: 29727692 - 2 unrelated families, one with a homozygous missense, the other chet for two PTCs. Patients have immotile respiratory cilia. Paramecium knockouts have lost cilia and swimming velocity, PMID: 29727693 - 5 families with biallelic PTCs. Patients had increased respiratory infections and 1 situs invertus Sources: Expert list |
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