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Skeletal dysplasia

Gene: HDAC8

Green List (high evidence)

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

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Limb hypoplasia-reduction defects gp of SD. Several cases.; Review on behalf of Tracy Lester
Created: 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

Eleanor Williams (Genomics England Curator)

I don't know

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: green
Created: 6 Mar 2019, 11:36 a.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
  • NHS GMS
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Wilson-Turner syndrome 309585
  • Cornelia de Lange syndrome 5 300882
OMIM
300269
Clinvar variants
Variants in HDAC8
Penetrance
Complete
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Wilson-Turner syndrome 309585; Cornelia de Lange syndrome 5 300882 for gene: HDAC8

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to HDAC8. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

28 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for HDAC8 were set to Cornelia de Lange syndrome 5 300882; Wilson-Turner syndrome 309585

28 Jul 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

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)

28 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Jul 2016, Gel status: 2

Upload gene information

Sarah Leigh (Genomics England Curator)

HDAC8 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

HDAC8 was created by sleigh

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

HDAC8 was added to Unexplained skeletal dysplasiapanel. Sources: