Genes in panel
STRs in panel
Prev Next

Primary immunodeficiency

Gene: SLC7A7

Green List (high evidence)

SLC7A7 (solute carrier family 7 member 7)
EnsemblGeneIds (GRCh38): ENSG00000155465
EnsemblGeneIds (GRCh37): ENSG00000155465
OMIM: 603593, Gene2Phenotype
SLC7A7 is in 10 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

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

Ivone Leong (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

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

Louise Daugherty (Genomics England Curator)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Lysinuric protein intolerance SLC7A7 deficiency
  • Severe bacterial infections
  • Predominantly Antibody Deficiencies
  • Lysinuric protein intolerance, 222700
OMIM
603593
Clinvar variants
Variants in SLC7A7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: SLC7A7.

4 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to SLC7A7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

20 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: slc7a7 has been classified as Amber List (Moderate Evidence).

20 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: SLC7A7.

22 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: slc7a7 has been classified as Green List (High Evidence).

28 Feb 2020, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene SLC7A7 were updated from 32086639; 32048120 to 28057010; 32086639; 32048120

28 Feb 2020, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: SLC7A7 were set to

28 Feb 2020, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: SLC7A7 were changed from to Lysinuric protein intolerance SLC7A7 deficiency; Severe bacterial infections; Predominantly Antibody Deficiencies; Lysinuric protein intolerance, 222700

28 Feb 2020, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: SLC7A7 was changed from to BIALLELIC, autosomal or pseudoautosomal

28 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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