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Primary immunodeficiency

Gene: SLC7A7

Amber List (moderate 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)

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 Amber
  • IUIS Classification December 2019
Phenotypes
  • Lysinuric protein intolerance SLC7A7 deficiency
  • Severe bacterial infections
  • Predominantly Antibody Deficiencies
  • Lysinuric protein intolerance, 222700
Tags
for-review
OMIM
603593
Clinvar variants
Variants in SLC7A7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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