EBP

emopamil binding protein (sterol isomerase)
OMIM: 300205, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green EBP in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.230	review	Unknown	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Victorian Clinical Genetics Services Expert Review Green Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Green EBP in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.417 Component of the following Super Panels: Neuromuscular Superpanel	review	Other	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Chondrodysplasia punctata, X-linked dominant, MIM# 302960
Green EBP in Chondrodysplasia Punctata Level 2: Skeletal disorders Version 1.1	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 Chondrodysplasia punctata, X-linked dominant, MIM# 302960
Red EBP in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.389	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Phenotypes MEND syndrome, MIM#300960
Red EBP in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.324	review	Other	Sources Expert Review Red Expert list Phenotypes Chondrodysplasia punctata, X-linked dominant, MIM# 302960
Green EBP in Ichthyosis Level 2: Dermatological disorders Version 1.11	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 Chondrodysplasia punctata, X-linked dominant MIM#302960 Conradi-Hunermann syndrome
Green EBP 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 Chondrodysplasia punctata, X-linked dominant MIM#302960 Conradi-Hunermann syndrome MEND syndrome, MIM#300960
Green EBP in Palmoplantar Keratoderma and Erythrokeratoderma Level 2: Dermatological disorders Version 0.132	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 Literature Phenotypes Chondrodysplasia punctata, X-linked dominant 302960
Amber EBP in Peroxisomal Disorders Level 2: Metabolic disorders Version 0.54 Component of the following Super Panels: Metabolic Disorders Superpanel 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 Review Phenotypes Chondrodysplasia punctata, X-linked dominant (MIM#302960)
Green EBP in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.281 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 Victorian Clinical Genetics Services Expert Review Green
Green EBP in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.540	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green EBP 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 Chondrodysplasia punctata, X-linked dominant MIM#302960 Conradi-Hunermann syndrome MEND syndrome, MIM#300960 Tags somatic
Green EBP 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 UKGTN Victorian Clinical Genetics Services Phenotypes MEND syndrome CDPXLD MEND syndrome-300960 XLR. X-linked dominant chondrodysplasia punctata Chondrodysplasia punctata, X-linked dominant, 302960
Green EBP in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.260	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes MEND SYNDROME MEND
Green EBP 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 Genetic Health Queensland Phenotypes Chondrodysplasia punctata, X-linked dominant MIM#302960 Conradi-Hunermann syndrome MEND syndrome, MIM#300960