IUGR and IGF abnormalities
Gene: HDAC8EnsemblGeneIds (GRCh38): ENSG00000147099
EnsemblGeneIds (GRCh37): ENSG00000147099
OMIM: 300269, Gene2Phenotype
HDAC8 is in 10 panels
1 review
emma baple (Genomics England Curator)
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
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
emma baple (Genomics England Curator)HDAC8 was added to IUGR and IGF abnormalitiespanel. Sources: Other
Created
emma baple (Genomics England Curator)HDAC8 was created by ebapleC