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Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SLC7A7 Arina Puzriakova Tag for-review was removed from gene: SLC7A7.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SLC7A7 Arina Puzriakova commented on gene: SLC7A7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 SLC7A7 Arina Puzriakova Source Expert Review Green was added to SLC7A7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.354 SLC7A7 Arina Puzriakova Classified gene: SLC7A7 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.354 SLC7A7 Arina Puzriakova Added comment: 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).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.354 SLC7A7 Arina Puzriakova Gene: slc7a7 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.353 SLC7A7 Arina Puzriakova Tag for-review tag was added to gene: SLC7A7.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.193 SLC7A7 Arina Puzriakova reviewed gene: SLC7A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 32504080; Phenotypes: Lysinuric protein intolerance, 222700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.108 SLC7A7 Ivone Leong Classified gene: SLC7A7 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.108 SLC7A7 Ivone Leong Added comment: 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.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.108 SLC7A7 Ivone Leong Gene: slc7a7 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 SLC7A7 Zornitza Stark reviewed gene: SLC7A7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lysinuric protein intolerance, MIM# 222700, Hyper-inflammatory response of macrophages, Normal NK cell function, Lysinuric protein intolerance, Bleeding tendency, Alverolar proteinosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 SLC7A7 Louise Daugherty reviewed gene: SLC7A7: Rating: AMBER; Mode of pathogenicity: ; Publications: 28057010; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 SLC7A7 Louise Daugherty Publications for gene SLC7A7 were updated from 32086639; 32048120 to 28057010; 32086639; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.27 SLC7A7 Louise Daugherty Publications for gene: SLC7A7 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v2.26 SLC7A7 Louise Daugherty Phenotypes for gene: SLC7A7 were changed from to Lysinuric protein intolerance SLC7A7 deficiency; Severe bacterial infections; Predominantly Antibody Deficiencies; Lysinuric protein intolerance, 222700
Primary immunodeficiency or monogenic inflammatory bowel disease v2.25 SLC7A7 Louise Daugherty Mode of inheritance for gene: SLC7A7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.15 SLC7A7 Louise Daugherty 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