PanelApp (stage)
  1. Genes and Genomic Entities
  2. RSPH3

RSPH3

radial spoke head 3 homolog
OMIM: 615876, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green RSPH3 in Ciliary Dyskinesia


Level 2: Respiratory disorders
Version 1.39

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 32 (MIM#616481)

Red RSPH3 in Heterotaxy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.32

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 32 (MIM#616481)

Green RSPH3 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 32 MIM#616481

Red RSPH3 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Ciliary dyskinesia, primary, 32 (MIM#616481)