Limb disorders
Gene: HDAC8Comment when marking as ready: Causation clear. CdLS is associated with a variable spectrum of limb defects, which can involve the thumbs and radii therefore seems appropriate for inclusion on the differential.Created: 11 May 2017, 12:29 p.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported in Cornelia de Lange syndrome 5 300882 and one in Wilson-Turner syndrome 309585Created: 28 Jul 2016, 2:12 p.m.
Tier 3Created: 17 Jun 2016, 8:04 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Cornelia de Lange syndrome 5 300882 XLD; Wilson-Turner syndrome 309585 XLD
Variants in this GENE are reported as part of current diagnostic practice
Ana Beleza: Tier 3
Source Expert Review Green was added to HDAC8. Added phenotypes Cornelia de Lange syndrome 5, 300882 for gene: HDAC8
gene: HDAC8 was added gene: HDAC8 was added to Limb disorders. Sources: Other Mode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: HDAC8 were set to Cornelia de Lange syndrome 5, 300882