Primary immunodeficiencyGene: EFL1
Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Created: 20 Oct 2020, 3:28 p.m. | Last Modified: 20 Oct 2020, 3:28 p.m.
Panel Version: 2.350
Comment on list classification: EFL1 identified by expert review. Promoting from Grey to Green, sufficient number of unrelated individuals with Shwachman-Diamond like syndrome.
Created: 28 Apr 2020, 7:35 a.m. | Last Modified: 28 Apr 2020, 7:35 a.m.
Panel Version: 2.130
Six unrelated families reported, two had the same homozygous variant, one family single variant plus 'expression defect' identified. Neutropaenia is part of the phenotype, and other SDS genes are part of the PID panel.
Sources: Expert list
Created: 10 Apr 2020, 6:23 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Shwachman-Diamond syndrome 2, MIM# 617941
Variants in this GENE are reported as part of current diagnostic practice
Gene: efl1 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: EFL1.
Gene: efl1 has been classified as Green List (High Evidence).
gene: EFL1 was added gene: EFL1 was added to Primary immunodeficiency. Sources: Expert list Mode of inheritance for gene: EFL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EFL1 were set to 28331068; 31151987 Phenotypes for gene: EFL1 were set to Shwachman-Diamond syndrome 2, MIM# 617941 Review for gene: EFL1 was set to GREEN gene: EFL1 was marked as current diagnostic