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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) |
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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 |
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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 |