HDAC8

histone deacetylase 8
OMIM: 300269, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green HDAC8 in Radial dysplasia Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.25	review	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 syndrome 5, 300882
Green HDAC8 in IUGR and IGF abnormalities Level 3: Growth hormone disorders Level 2: Endocrine disorders Version 1.70	review	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
Green HDAC8 in Limb disorders Level 2: Musculoskeletal Version 8.6 Latest signed off version: v8.0 (6 May 2026) Component of the following Super Panels: Paediatric disorders	review	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 syndrome 5, 300882
Green HDAC8 in Severe microcephaly Level 2: Neurology Version 9.3 Latest signed off version: v9.0 (6 May 2026)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Green Literature Phenotypes Cornelia de Lange syndrome 5, 300882 (includes Small head circumference)
Green HDAC8 in Skeletal dysplasia Level 2: Musculoskeletal Version 9.9 Latest signed off version: v9.0 (6 May 2026) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Expert list Phenotypes Wilson-Turner syndrome 309585 Cornelia de Lange syndrome 5 300882
Green HDAC8 in Fetal anomalies Level 2: Fetal (including NIPD) Version 7.7 Latest signed off version: v7.0 (6 May 2026)	review	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
Green HDAC8 in DDG2P Version 7.1 Latest signed off version: v7.0 (6 May 2026) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CORNELIA DE LANGE-LIKE SYNDROME HDAC8 XLR Cornelia de Lange Syndrome HDAC8 X-linked dominant
Green HDAC8 in Clefting Level 2: Musculoskeletal Version 7.3 Latest signed off version: v7.0 (6 May 2026) Component of the following Super Panels: Paediatric disorders	review	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
Green HDAC8 in Intellectual disability Level 2: Developmental disorders Version 10.17 Latest signed off version: v10.0 (6 May 2026) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Wilson-Turner syndrome, 309585Cornelia de Lange syndrome 5, 300882 CORNELIA DE LANGE-LIKE SYNDROME
Red HDAC8 in Monogenic short stature Level 2: Endocrinology Version 2.1 Latest signed off version: v2.0 (6 May 2026)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Phenotypes Cornelia De Lange