HDAC6

histone deacetylase 6
OMIM: 300272, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red HDAC6 in Mendeliome


Version 1.3664

1 review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • chondrodysplasia MONDO:0022723

Red HDAC6 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.359

1 review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • Literature
  • Literature
Phenotypes
  • chondrodysplasia MONDO:0022723