Congenital Heart Defect
Gene: HDAC8EnsemblGeneIds (GRCh38): ENSG00000147099
EnsemblGeneIds (GRCh37): ENSG00000147099
OMIM: 300269, Gene2Phenotype
HDAC8 is in 15 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
XL.Created: 26 Jul 2022, 4:09 a.m. | Last Modified: 26 Jul 2022, 4:09 a.m.
Panel Version: 0.247
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, MIM# 300882
Chloe Stutterd (Victorian Clinical Genetics Services)
PMID:24403048: 11/30 individuals with HDAC8-related CdLS identified with CHD (ASD, VSD, ToF, valve dysplasia, PDA)(Supp table).
Sources: Literature, Expert listCreated: 23 Jul 2022, 6:29 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
MIM# 300882 Cornelia de Lange syndrome 5
Publications
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
- Phenotypes
-
- Cornelia de Lange syndrome 5, MIM# 300882
- OMIM
- 300269
- Clinvar variants
- Variants in HDAC8
- Penetrance
- None
- Publications
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hdac8 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: HDAC8 were changed from MIM# 300882 Cornelia de Lange syndrome 5 to Cornelia de Lange syndrome 5, MIM# 300882
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: HDAC8 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hdac8 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chloe Stutterd (Victorian Clinical Genetics Services)gene: HDAC8 was added gene: HDAC8 was added to Congenital Heart Defect. Sources: Literature,Expert list Mode of inheritance for gene: HDAC8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HDAC8 were set to 24403048 Phenotypes for gene: HDAC8 were set to MIM# 300882 Cornelia de Lange syndrome 5 Review for gene: HDAC8 was set to GREEN gene: HDAC8 was marked as current diagnostic