DNAJB4

DnaJ heat shock protein family (Hsp40) member B4
OMIM: 611327, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red DNAJB4 in Hypertrophic cardiomyopathy


Level 2: Cardiovascular disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Myopathy, MONDO:0005336, DNAJB4-related

Green DNAJB4 in Mendeliome


Version 2.0

3 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital myopathy 21 with early respiratory failure, MIM# 620326
  • distal myopathy MONDO:0018949

Green DNAJB4 in Muscular dystrophy and myopathy_Paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital Myopathy 21 with early respiratory failure (MIM#620326
  • MONDO:005336)

Green DNAJB4 in Limb-Girdle Muscular Dystrophy and Distal Myopathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

3 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
  • Expert Review Green
  • Literature
Phenotypes
  • distal myopathy MONDO:0018949
  • Myopathy, MONDO:0005336, DNAJB4-related