HDAC8

histone deacetylase 8
OMIM: 300269, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Red HDAC8 in Congenital diaphragmatic hernia Level 2: Dysmorphic and congenital abnormality syndromes Version 1.16	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 Victorian Clinical Genetics Services Phenotypes Cornelia de Lange syndrome 5, MIM# 300882
Green HDAC8 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.430	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 Expert list Literature Phenotypes Cornelia de Lange syndrome 5, MIM# 300882
Green HDAC8 in Hypertrichosis syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 0.46	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 Victorian Clinical Genetics Services Phenotypes Cornelia de Lange syndrome 5, MIM# 300882
Green HDAC8 in Mendeliome Version 1.2374	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 Victorian Clinical Genetics Services Phenotypes Cornelia de Lange syndrome 5, MIM# 300882
Green HDAC8 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.301	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 Expert list Phenotypes Cornelia de Lange syndrome 5, MIM# 300882
Green HDAC8 in Radial Ray Abnormalities Level 2: Dysmorphic and congenital abnormality syndromes Version 1.15 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	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 Expert list Phenotypes Cornelia de Lange syndrome 5, MIM# 300882
Amber HDAC8 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.119 Component of the following Super Panels: Progressive Neurological Conditions	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 Amber Expert list Phenotypes Cornelia de Lange syndrome 5, MIM# 300882
Green HDAC8 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	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 Genetic Health Queensland Phenotypes Cornelia de Lange syndrome 5, MIM# 300882
Green HDAC8 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.305	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 Expert Review Green Radboud University Medical Center, Nijmegen NHS GMS Expert list Emory Genetics Laboratory Victorian Clinical Genetics Services Phenotypes Cornelia de Lange syndrome 5 300882 Wilson-Turner syndrome 309585
Green HDAC8 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Cornelia de Lange syndrome-like features, ocular hypertelorism & large fontanelle
Green HDAC8 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.260	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 CDLS5 CORNELIA DE LANGE SYNDROME 5
Green HDAC8 in Growth failure Version 1.76	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 Genomics England PanelApp Phenotypes Cornelia de Lange syndrome 5, MIM# 300882
Green HDAC8 in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 0.76 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Wilson-Turner syndrome 309585 Cornelia de Lange syndrome 5 300882
Green HDAC8 in Fetal anomalies Version 1.314	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 Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Cornelia de Lange syndrome 5, MIM# 300882
Red HDAC8 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	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 BabySeq Category A gene Phenotypes Cornelia de Lange syndrome 5, MIM# 300882