Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: SLC39A7The 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, 3:39 p.m. | Last Modified: 20 Oct 2020, 3:39 p.m.
Panel Version: 2.356
Comment on list classification: Promoted from Red to Green based on expert reviews and evidence.Created: 17 Apr 2020, 8:46 a.m. | Last Modified: 17 Apr 2020, 8:46 a.m.
Panel Version: 2.91
Five unrelated families with hypomorphic variants and a mouse model recapitulating phenotype.Created: 11 Apr 2020, 10:25 a.m. | Last Modified: 11 Apr 2020, 10:25 a.m.
Panel Version: 2.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Antibody deficiency; early onset infections; blistering dermatosis; failure to thrive; thrombocytopaenia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Added publication referenced by IUIS december 2019 updateCreated: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36
Comment on list classification: New gene added for reviewCreated: 26 Feb 2020, 4:37 p.m. | Last Modified: 26 Feb 2020, 4:37 p.m.
Panel Version: 2.8
New gene suggested by expert reviewer- unable to do a full curational review (Green rating recommended) as we are waiting for new PanelApp features before this gene can be added to this GMS panel.Created: 22 Jan 2020, 11:37 a.m. | Last Modified: 22 Jan 2020, 11:37 a.m.
Panel Version: 2.0
Publications
Six individuals from five families with biallelic missense +/- nonsense variants, phenocopied by mouse models.
Sources: LiteratureCreated: 18 Jan 2020, 6:37 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Agammaglobulinemia; B cell deficiency
Publications
Tag for-review was removed from gene: SLC39A7.
Source Expert Review Green was added to SLC39A7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: slc39a7 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: SLC39A7.
Gene: slc39a7 has been classified as Green List (High Evidence).
Publications for gene SLC39A7 were updated from 32048120; 30718914; 32086639 to 32086639; 32048120; 30718914
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
Gene: slc39a7 has been classified as Red List (Low Evidence).
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