Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: EFL1

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 4 Mar 2022, 10:17 a.m. | Last Modified: 4 Mar 2022, 10:17 a.m.

Panel Version: 2.529

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

Green List (high evidence)

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

Phenotypes
Shwachman-Diamond syndrome 2, MIM# 617941

Publications

• 28331068
• 31151987

Variants in this GENE are reported as part of current diagnostic practice