RSPH3:Ensemblv90

radial spoke head 3 homolog
OMIM: 615876, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green RSPH3 in Ciliary Dyskinesia


Level 2: Respiratory disorders
Version 1.68

2 reviews 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 1.44

1 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 1.3802

1 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 1.482

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

Green RSPH3 in Ciliary Dyskinesia


Level 2: Respiratory disorders
Version 2.0

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

Red RSPH3 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 Red
Phenotypes
  • Ciliary dyskinesia, primary, 32 (MIM#616481)