Genomics England
GMS Panels
Panels
Genes and Entities

EFL1

elongation factor like GTPase 1
OMIM: 617538
PanelMode of inheritanceDetails
4 panels
Green
in Cytopenia - NOT Fanconi anaemia
R-numbers: R91
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Shwachman-Diamond syndrome 2, OMIM:617941
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MONDO:0044205, OMIM:617941.0, EFL1-related Shwachman-Diamond syndrome
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Shwachman-Diamond syndrome 2, OMIM:617941
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Shwachman-Diamond syndrome 2, OMIM:617941