EFL1

elongation factor like GTPase 1
OMIM: 617538, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green EFL1 in COVID-19 research


Level 2: Viral research
Version 1.146

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2019
  • Expert Review Green
Phenotypes
  • Congenital neutropenias
  • Congenital defects of phagocyte number or function
  • Shwachman-Diamond Syndrome, 617941
Green EFL1 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.78
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Shwachman-Diamond syndrome 2, OMIM:617941
Green EFL1 in Cytopenia - NOT Fanconi anaemia


Level 2: Haematology
Version 4.32
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • North West GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • London South GLH
Phenotypes
  • Shwachman-Diamond syndrome 2, OMIM:617941
Green EFL1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Shwachman-Diamond syndrome 2, OMIM:617941
Green EFL1 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MONDO:0044205
    • OMIM:617941.0
    • EFL1-related Shwachman-Diamond syndrome