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| DDG2P v3.12 | C11orf70 | Achchuthan Shanmugasundram reviewed gene: C11orf70: Rating: GREEN; Mode of pathogenicity: ; Publications: 29727692, 29727693; Phenotypes: PRIMARY CILIARY DYSKINESIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | C11orf70 | Achchuthan Shanmugasundram Publications for gene: C11orf70 were updated from 29727693; 29727692 to 29727692; 29727693 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.72 | C11orf70 | Eleanor Williams Tag gene-checked tag was added to gene: C11orf70. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.39 | C11orf70 | Rebecca Foulger Added comment: Comment on mode of inheritance: Although the DD-G2P Disease confidence rating is 'confirmed' for PRIMARY CILIARY DYSKINESIA, the MOI was missing in Gene2Phenotype at the time when C11orf70 (CFAP300) was added to the DDG2P panel. Therefore, set inheritance to 'biallelic' to match AR inheritance recorded in OMIM for Ciliary dyskinesia, primary, 38, 618063. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.39 | C11orf70 | Rebecca Foulger Mode of inheritance for gene: C11orf70 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | C11orf70 | Rebecca Foulger Tag new-gene-name tag was added to gene: C11orf70. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | C11orf70 | Rebecca Foulger commented on gene: C11orf70: Added 'new-gene-name' tag: C11orf70 has a new gene symbol in HGNC: CFAP300. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | C11orf70 | Rebecca Foulger reviewed gene: C11orf70: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.37 | C11orf70 |
Rebecca Foulger gene: C11orf70 was added gene: C11orf70 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: C11orf70 was set to Publications for gene: C11orf70 were set to 29727693; 29727692 Phenotypes for gene: C11orf70 were set to PRIMARY CILIARY DYSKINESIA |
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