EFL1

elongation factor like GTPase 1
OMIM: 617538, Gene2Phenotype

3 panels

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


Level 2: Viral research
Version 1.142

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


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

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


Version 3.34
Latest signed off version: v3.0 (22 Mar 2023)

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, 617941
  • 617941 Shwachman-Diamond syndrome 2