Genomics England
GMS Panels
Panels
Genes and Entities

EFL1

elongation factor like GTPase 1
OMIM: 617538
PanelMode of inheritanceDetails
2 panels
Green
in Cytopenia - NOT Fanconi anaemia
R-numbers: R91
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Shwachman-Diamond syndrome 2, 617941, 617941 Shwachman-Diamond syndrome 2
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 4.123
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Shwachman-Diamond syndrome 2, MIM# 617941