IUGR and IGF abnormalities

Gene: HDAC8

Green List (high evidence)

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

1 review

emma baple (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

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
OMIM
300269
Clinvar variants
Variants in HDAC8
Penetrance
Complete
Panels with this gene

History Filter Activity

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

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

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

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

10 May 2016, Gel status: 0

Added New Source

emma baple (Genomics England Curator)

HDAC8 was added to IUGR and IGF abnormalitiespanel. Sources: Other

10 May 2016, Gel status: 0

Created

emma baple (Genomics England Curator)

HDAC8 was created by ebapleC