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Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SLC39A7 Arina Puzriakova Tag for-review was removed from gene: SLC39A7.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SLC39A7 Arina Puzriakova commented on gene: SLC39A7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 SLC39A7 Arina Puzriakova Source Expert Review Green was added to SLC39A7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.356 SLC39A7 Arina Puzriakova Classified gene: SLC39A7 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.356 SLC39A7 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 v2.356 SLC39A7 Arina Puzriakova Gene: slc39a7 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.355 SLC39A7 Arina Puzriakova Tag for-review tag was added to gene: SLC39A7.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.91 SLC39A7 Ivone Leong Classified gene: SLC39A7 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.91 SLC39A7 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Green based on expert reviews and evidence.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.91 SLC39A7 Ivone Leong Gene: slc39a7 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 SLC39A7 Zornitza Stark reviewed gene: SLC39A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 30718914; Phenotypes: Antibody deficiency, early onset infections, blistering dermatosis, failure to thrive, thrombocytopaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 SLC39A7 Louise Daugherty edited their review of gene: SLC39A7: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 30718914
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 SLC39A7 Louise Daugherty Publications for gene SLC39A7 were updated from 32048120; 30718914; 32086639 to 32086639; 32048120; 30718914
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 SLC39A7 Louise Daugherty Source IUIS Classification December 2019 was added to SLC39A7.
Added phenotypes Early onset infections, blistering dermatosis, failure to thrive, thrombocytopenia; Predominantly Antibody Deficiencies for gene: SLC39A7
Publications for gene SLC39A7 were updated from 30718914 to 32048120; 30718914; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.8 SLC39A7 Louise Daugherty Classified gene: SLC39A7 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.8 SLC39A7 Louise Daugherty Added comment: Comment on list classification: New gene added for review
Primary immunodeficiency or monogenic inflammatory bowel disease v2.8 SLC39A7 Louise Daugherty Gene: slc39a7 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 SLC39A7 Louise Daugherty reviewed gene: SLC39A7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 SLC39A7 Owen Siggs gene: SLC39A7 was added
gene: SLC39A7 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: SLC39A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A7 were set to 30718914
Phenotypes for gene: SLC39A7 were set to Agammaglobulinemia; B cell deficiency
Review for gene: SLC39A7 was set to GREEN
Added comment: Six individuals from five families with biallelic missense +/- nonsense variants, phenocopied by mouse models.
Sources: Literature