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Choanal atresia v0.3 | CHD7 | Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association, choanal atresia is a key feature. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Choanal atresia v0.3 | CHD7 | Zornitza Stark Marked gene: CHD7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Choanal atresia v0.3 | CHD7 | Zornitza Stark Gene: chd7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Choanal atresia v0.3 | CHD7 | Zornitza Stark Phenotypes for gene: CHD7 were changed from CHARGE syndrome, 214800 to CHARGE syndrome, MIM# 214800; MONDO:0008965 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Choanal atresia v0.2 | CHD7 | Zornitza Stark reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CHARGE syndrome, MIM# 214800, MONDO:0008965; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Choanal atresia v0.1 | CHD7 |
Zornitza Stark Source Genomics England PanelApp was added to CHD7. Added phenotypes CHARGE syndrome, 214800 for gene: CHD7 |
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Choanal atresia v0.0 | CHD7 |
Zornitza Stark gene: CHD7 was added gene: CHD7 was added to Choanal atresia. Sources: Expert Review Green,Illumina TruGenome Clinical Sequencing Services,Eligibility statement prior genetic testing,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CHD7 were set to CHARGE syndrome, 214800 |