Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: SLC7A7

Green List (high evidence)

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, 3:31 p.m. | Last Modified: 20 Oct 2020, 3:31 p.m.

Panel Version: 2.354

PMID: 32504080 (2020) - Mouse model with global Slc7a7 deficiency recapitulated multiple human LPI phenotypes including features such as altered splenic structures/weight, increased percentage of neutrophils and decreased percentage of lymphocytes, indicating possible immune dysfunction.

Created: 22 Sep 2020, 9:38 a.m. | Last Modified: 22 Sep 2020, 9:38 a.m.

Panel Version: 2.193

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lysinuric protein intolerance, 222700

Publications

• 32504080

Comment on list classification: Promoted from Red to Green. SLC7A7 causes lysinuric protein intolerance (LPI) and immunodeficiency is one of the phenotypes. There are >3 unrelated cases reported on OMIM.

Created: 22 Apr 2020, 10:22 a.m. | Last Modified: 22 Apr 2020, 10:22 a.m.

Panel Version: 2.108

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lysinuric protein intolerance, MIM# 222700; Hyper-inflammatory response of macrophages; Normal NK cell function; Lysinuric protein intolerance; Bleeding tendency; Alverolar proteinosis

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

I don't know

Added publication referenced by IUIS december 2019 update

Created: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.

Panel Version: 2.36

Publications

• 28057010