EFL1

elongation factor like GTPase 1
OMIM: 617538, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green EFL1 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Shwachman-Diamond syndrome 2, MIM# 617941

    Green EFL1 in Mendeliome


    Version 1.2374

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Shwachman-Diamond syndrome 2, MIM# 617941

    Green EFL1 in Phagocyte Defects


    Level 2: Immunological disorders
    Version 1.33

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Shwachman-Diamond syndrome 2, MIM# 617941

    Green EFL1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.305

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • 617941 SHWACHMAN-DIAMOND SYNDROME 2
    • SDS2

    Green EFL1 in Metaphyseal dysplasias

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.5

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • SDS2
    • 617941 SHWACHMAN-DIAMOND SYNDROME 2

    Green EFL1 in IBMDx study


    Version 0.35

    review Unknown
    Sources
    • Expert Review Green
    • IBMDx Study
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Shwachman-Diamond syndrome 2, MIM# 617941

    Green EFL1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BeginNGS
    Phenotypes
    • Shwachman-Diamond syndrome 2, MIM# 617941
    Tags
    • gastrointestinal