DNAJB13:Ensemblv90

DnaJ heat shock protein family (Hsp40) member B13
OMIM: 610263, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green DNAJB13 in Ciliary Dyskinesia


Level 2: Respiratory disorders
Version 1.68

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ciliary dyskinesia, primary, 34 617091

Red DNAJB13 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, 34, MIM# 617091

Green DNAJB13 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 34, MIM# 617091

Red DNAJB13 in Fetal anomalies


Version 1.482

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Primary ciliary dyskinesia

Green DNAJB13 in Ciliary Dyskinesia


Level 2: Respiratory disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Ciliary dyskinesia, primary, 34 617091

Red DNAJB13 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, 34, MIM# 617091