EBP

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

15 panels

Panel Reviews Mode of inheritance Details
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