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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
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