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Fetal anomalies

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

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for CORNELIA DE LANGE-LIKE SYNDROME and Confirmed for WILSON-TURNER SYNDROME.
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOI listed as Hemizgyous for CORNELIA DE LANGE-LIKE SYNDROME, and WILSON-TURNER SYNDROME, and X-linked dominant for CORNELIA DE LANGE-LIKE SYNDROME. In the original PAGE file, MOP listed as LOF for CORNELIA DE LANGE-LIKE SYNDROME, and listed as Uncertain for WILSON-TURNER SYNDROME.
Created: 8 Nov 2018, 4:45 p.m.

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
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • WILSON-TURNER SYNDROME
  • CORNELIA DE LANGE-LIKE SYNDROME
OMIM
300269
Clinvar variants
Variants in HDAC8
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes WILSON-TURNER SYNDROME for gene: HDAC8

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes CORNELIA DE LANGE-LIKE SYNDROME for gene: HDAC8

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: HDAC8 was added gene: HDAC8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype 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 CORNELIA DE LANGE-LIKE SYNDROME