Clefting
Gene: HDAC8

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

1 review

Helen Brittain (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)

Phenotypes
CORNELIA DE LANGE SYNDROME 5; CDLS5

Created: 26 May 2017, 7:39 a.m.

Panel version: 0.193

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
CDLS5

OMIM

300269

Clinvar variants

Variants in HDAC8

Penetrance

Complete

Panels with this gene

History Filter Activity

31 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

26 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

HDAC8 was added to Cleftingpanel. Sources: Expert Review Green

26 May 2017, Gel status: 0

Created