CCDC40

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

9 panels

Panel Reviews Mode of inheritance Details
9 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 Mendeliome


Version 1.3813

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 0.279

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Primary ciliary dyskinesia

Green CCDC40 in Fetal anomalies


Version 1.483

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 1.147

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Ciliary dyskinesia, primary, 15, MIM#613808