Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: SBDS
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): SBDS .PanelApp HGNC gene symbol check: SBDS . IUIS Disease: Shwachman-Diamond Syndrome . IUIS Inheritance: AR .T cells: Decreased, .B cells: N/A, .IUIS Other affected cells: N . IUIS Associated features: Pancytopenia, exocrine pancreatic insufficiency, chondrodysplasia. IUIS Major category: Congenital defects of phagocyte number or function. IUIS Subcategory: Defects of MotilityCreated: 2 Jul 2018, 10:35 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: SBDS, PanelApp HGNC gene symbol check: SBDS, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Phagocytic disorders / Shwachman-Diamond-syndrome / Shwachman-Diamond-syndromeCreated: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: SBDS, GRID_Gene_Symbol: SBDS, GRID_Transcript_ENS_Community submitted: ENST00000246868, GRID_Transcript_RefSeq: NM_016038.2, GRID_Transcript_ENS_used_on_Production: ENST00000246868Created: 17 Apr 2018, 12:12 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Shwachman-Diamond syndrome
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Two expert reviewers recommend Green. Found in 2/4 sources. Three LOF variants reported in literature.Created: 25 May 2016, 9:41 a.m.
Source NHS GMS was added to SBDS.
Source North West GLH was added to SBDS.
Source London North GLH was added to SBDS.
2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Phenotypes for gene SBDS were set to Shwachman-Diamond syndrome, 260400, Shwachman-Bodian-Diamond syndrome, Shwachman-Diamond-syndrome, Pancytopenia, exocrine pancreatic insufficiency, chondrodysplasia, Congenital defects of phagocyte number or function
IUIS Classification February 2018 was added to SBDS. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to SBDS. Panel: Primary immunodeficiency disorders
Gene: sbds has been classified as Green List (High Evidence).
ESID Registry 20171117 was added to SBDS. Panel: Primary immunodeficiency disorders Phenotypes for gene SBDS were set to Shwachman-Diamond syndrome, 260400, Shwachman-Bodian-Diamond syndrome, Shwachman-Diamond-syndrome
Phenotypes for gene SBDS were set to Shwachman-Diamond syndrome, 260400, Shwachman-Bodian-Diamond syndrome
GRID V2.0 was added to SBDS. Panel: Primary immunodeficiency disorders Phenotypes for gene SBDS were set to Shwachman-Diamond syndrome, 260400, Shwachman-Bodian-Diamond syndrome
SBDS was added to Primary immunodeficiency disorders panel. Sources: Expert Review Green, Congenital neutropaenia v1.22
SBDS was created by Louise Daugherty