EFNB1

ephrin B1
OMIM: 300035, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Amber EFNB1 in Limb disorders


Level 2: Musculoskeletal
Version 9.4
Latest signed off version: v9.0 (12 Aug 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 Amber
    • Expert list
    Phenotypes
    • Craniofrontonasal dysplasia, OMIM:304110
    Green EFNB1 in Common craniosynostosis syndromes


    Level 2: Musculoskeletal
    Version 1.19
    Latest signed off version: v1.18 (12 Aug 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 list
    • Expert Review Green
    Phenotypes
    • Craniofrontonasal dysplasia OMIM:304110
    No list EFNB1 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 10.8
    Latest signed off version: v10.0 (12 Aug 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 Removed
    • NHS GMS
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Craniofrontonasal dysplasia, OMIM:304110
    Tags
    • curated_removed
    Green EFNB1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.5
    Latest signed off version: v8.0 (12 Aug 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
    • Craniofrontonasal dysplasia, OMIM:304110
    Green EFNB1 in Rare syndromic craniosynostosis or isolated multisuture synostosis


    Level 2: Musculoskeletal
    Version 7.1
    Latest signed off version: v7.0 (12 Aug 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
    • Eligibility statement prior genetic testing
    • Expert list
    Phenotypes
    • Craniofrontonasal dysplasia, OMIM:304110
    Tags
    • x-linked-over-dominance
    Green EFNB1 in DDG2P


    Version 8.2
    Latest signed off version: v8.0 (12 Aug 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
    • CRANIOFRONTONASAL SYNDROME, OMIM:304110
    Green EFNB1 in Clefting


    Level 2: Musculoskeletal
    Version 7.10
    Latest signed off version: v7.8 (12 Aug 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
    • Craniofrontonasal dysplasia, OMIM:304110
    Amber EFNB1 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.28
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • 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 Amber
    • Victorian Clinical Genetics Services
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Craniofrontonasal dysplasia, OMIM:304110