Clefting disorders
Gene: HDAC8
HDAC8 (histone deacetylase 8)
EnsemblGeneIds (GRCh38): ENSG00000147099
EnsemblGeneIds (GRCh37): ENSG00000147099
OMIM: 300269, Gene2Phenotype
HDAC8 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000147099
EnsemblGeneIds (GRCh37): ENSG00000147099
OMIM: 300269, Gene2Phenotype
HDAC8 is in 15 panels
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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
- Phenotypes
-
- CDLS5
- CORNELIA DE LANGE SYNDROME 5
- OMIM
- 300269
- Clinvar variants
- Variants in HDAC8
- Penetrance
- None
- Panels with this gene
-
- Clefting disorders
- Microcephaly
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Hypertrichosis syndromes
- Genetic Epilepsy
- Hand and foot malformations
- Radial Ray Abnormalities
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Mendeliome
- Congenital diaphragmatic hernia
- Growth failure
History Filter Activity
16 Sep 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: HDAC8 was added gene: HDAC8 was added to Clefting_GEL. Sources: Expert Review Green 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 CDLS5; CORNELIA DE LANGE SYNDROME 5