Skeletal dysplasia
Gene: HDAC8
Limb hypoplasia-reduction defects gp of SD. Several cases.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 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; Wilson-Turner syndrome 309585
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: HDAC8; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.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
Added phenotypes Wilson-Turner syndrome 309585; Cornelia de Lange syndrome 5 300882 for gene: HDAC8
Source NHS GMS was added to HDAC8. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for HDAC8 were set to Cornelia de Lange syndrome 5 300882; Wilson-Turner syndrome 309585
Mode of inheritance for HDAC8 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
This gene has been classified as Green List (High Evidence).
HDAC8 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
HDAC8 was created by sleigh
HDAC8 was added to Unexplained skeletal dysplasiapanel. Sources: