CCDC40:Ensemblv90

coiled-coil domain containing 40
OMIM: 613799, ClinGen, DECIPHER

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green CCDC40 in Ciliary Dyskinesia Level 2: Respiratory disorders Version 1.68	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 15, MIM#613808
Green CCDC40 in Heterotaxy Level 2: Dysmorphic and congenital abnormality syndromes Version 1.44	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 15, MIM#613808
Green CCDC40 in Interstitial Lung Disease Level 2: Respiratory disorders Version 1.4	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 15, MIM#613808
Green CCDC40 in Mendeliome Version 1.3802	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 15, MIM#613808
Red CCDC40 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.365	1 review	Not set	Sources Expert Review Green Emory Genetics Laboratory Victorian Clinical Genetics Services
Green CCDC40 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.111	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ciliary dyskinesia, primary, 15, 613808 (3)
Green CCDC40 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Primary ciliary dyskinesia
Green CCDC40 in Fetal anomalies Version 1.482	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 15, MIM#613808
Green CCDC40 in Prepair 1000+ Level 2: Screening Version 2.15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ciliary dyskinesia, primary, 15 MIM#613808
Red CCDC40 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Ciliary dyskinesia, primary, 15, MIM#613808
Green CCDC40 in Ciliary Dyskinesia Level 2: Respiratory disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Ciliary dyskinesia, primary, 15, MIM#613808
Green CCDC40 in Heterotaxy Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Ciliary dyskinesia, primary, 15, MIM#613808
Green CCDC40 in Interstitial Lung Disease Level 2: Respiratory disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Phenotypes Ciliary dyskinesia, primary, 15, MIM#613808
Green CCDC40 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Ciliary dyskinesia, primary, 15, 613808 (3)
Green CCDC40 in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Primary ciliary dyskinesia
Green CCDC40 in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Genomics England PanelApp Expert Review Green Phenotypes Ciliary dyskinesia, primary, 15, MIM#613808
Green CCDC40 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Ciliary dyskinesia, primary, 15 MIM#613808