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Limb disorders

Gene: HDAC8

Green List (high evidence)

HDAC8 (histone deacetylase 8)
EnsemblGeneIds (GRCh38): ENSG00000147099
EnsemblGeneIds (GRCh37): ENSG00000147099
OMIM: 300269, Gene2Phenotype
HDAC8 is in 10 panels

3 reviews

Helen Brittain (Genomics England Curator)

Comment 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.

Sarah Leigh (Genomics England Curator)

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 309585
Created: 28 Jul 2016, 2:12 p.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 3
Created: 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

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Cornelia de Lange syndrome 5, 300882
OMIM
300269
Clinvar variants
Variants in HDAC8
Penetrance
None
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 3

16 Oct 2018, Gel status: 4

Added New Source, Set Phenotypes

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to HDAC8. Added phenotypes Cornelia de Lange syndrome 5, 300882 for gene: HDAC8

16 Oct 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Sarah Leigh (Genomics England Curator)

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