EBP

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

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Green EBP in Chondrodysplasia punctata

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.4

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
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Chondrodysplasia punctata, X-linked dominant, 302960
  • X-linked dominant chondrodysplasia punctata
  • MEND syndrome

Green EBP in Peroxisomal disorders

Level 3: Peroxisomal disorders
Level 2: Metabolic disorders
Version 1.12

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Chondrodysplasia punctata, X-linked dominant 302960 XLD
  • MEND syndrome 300960 XLR

Red EBP in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.29

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Literature
Phenotypes
  • Chondrodysplasia punctata, X-linked dominant, 302960
  • Conradi Huenermann: Chondrodysplasia punctata

Amber EBP in Hydrocephalus


Version 2.109
Latest signed off version: v2.3 (2 Mar 2020)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • Expert Review Amber
  • Literature
Phenotypes
  • MEND syndrome, OMIM:300960
Tags
  • watchlist

Green EBP in Limb disorders


Version 2.42
Latest signed off version: v2.2 (13 Feb 2020)

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
    • Victorian Clinical Genetics Services
    Phenotypes
    • Polydactyly
    • Chondrodysplasia punctata, X-linked dominant 302960

    Green EBP in Palmoplantar keratodermas


    Version 1.7
    Latest signed off version: v1.3 (15 Oct 2020)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Conradi-Hunnermann-Happle syndrome

    Amber EBP in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.104
    Latest signed off version: v3.2 (13 Feb 2020)

    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
    • Chondrodysplasia punctata, X-linked dominant, OMIM:302960
    Tags
    • Q2_21_expert_review

    Green EBP in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.101
    Latest signed off version: v2.2 (13 Feb 2020)

    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
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert Review Green
    Phenotypes
    • X-linked dominant chondrodysplasia punctata
    • CDPXLD
    • MEND syndrome
    • Chondrodysplasia punctata, X-linked dominant, 302960
    • MEND syndrome-300960 XLR.

    Green EBP in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.460

    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
    • X-linked dominant chondrodysplasia punctata 2 (Disorders of sterol biosynthesis)
    • Chondrodysplasia punctata, X-linked dominant 302960 XLD
    • MEND syndrome 300960 XLR

    Green EBP in Inborn errors of metabolism


    Version 2.141
    Latest signed off version: v2.3 (17 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • MEND syndrome 300960 XLR
    • Chondrodysplasia punctata, X-linked dominant 302960 XLD
    • X-linked dominant chondrodysplasia punctata 2 (Disorders of sterol biosynthesis)

    Green EBP in Fetal anomalies


    Version 1.678
    Latest signed off version: v1.92 (21 Aug 2020)

    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
    • CHONDRODYSPLASIA PUNCTATA 2, X-LINKED

    Green EBP in DDG2P


    Version 2.28
    Latest signed off version: v2.2 (13 Feb 2020)

    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
    • CHONDRODYSPLASIA PUNCTATA 2, X-LINKED 302960

    Green EBP in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.32
    Latest signed off version: v2.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    Phenotypes
    • MEND SYNDROME
    • MEND

    Green EBP in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1136
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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
    Phenotypes
    • CHONDRODYSPLASIA PUNCTATA 2, X-LINKED

    Red EBP in Childhood onset dystonia or chorea or related movement disorder


    Version 1.130
    Latest signed off version: v1.58 (6 Oct 2020)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green EBP in Severe Paediatric Disorders


    Version 1.78

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Chondrodysplasia punctata, X-linked dominant, 302960
    • MEND syndrome, 300960