Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: SLC7A7
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
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
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
Added publication referenced by IUIS december 2019 updateCreated: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36
Publications
Tag for-review was removed from gene: SLC7A7.
Source Expert Review Green was added to SLC7A7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: slc7a7 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: SLC7A7.
Gene: slc7a7 has been classified as Green List (High Evidence).
Publications for gene SLC7A7 were updated from 32086639; 32048120 to 28057010; 32086639; 32048120
Publications for gene: SLC7A7 were set to
Phenotypes for gene: SLC7A7 were changed from to Lysinuric protein intolerance SLC7A7 deficiency; Severe bacterial infections; Predominantly Antibody Deficiencies; Lysinuric protein intolerance, 222700
Mode of inheritance for gene: SLC7A7 was changed from to BIALLELIC, autosomal or pseudoautosomal
gene: SLC7A7 was added gene: SLC7A7 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: SLC7A7 was set to