CCDC103

coiled-coil domain containing 103
OMIM: 614677, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green CCDC103 in Ciliary Dyskinesia


Level 2: Respiratory disorders
Version 1.49

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 17, MIM# 614679
Tags
  • founder

Green CCDC103 in Heterotaxy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.36

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 17, MIM# 614679
Tags
  • founder

Green CCDC103 in Mendeliome


Version 1.2511

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 17, MIM# 614679
Tags
  • founder

Green CCDC103 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 17, 614679 (3)

Red CCDC103 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Primary ciliary dyskinesia

Green CCDC103 in Fetal anomalies


Version 1.321

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 17, MIM# 614679

Green CCDC103 in Prepair 1000+


Level 2: Screening
Version 2.7

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 17, 614679 (3)

Red CCDC103 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.117

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Primary ciliary dyskinesia

Green CCDC103 in Prepair 500+


Level 2: Screening
Version 1.165

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Primary ciliary dyskinesia-17, MIM # 614679