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COVID-19 research

Gene: SBDS

Green List (high evidence)
SBDS (SBDS, ribosome maturation factor)
EnsemblGeneIds (GRCh38): ENSG00000126524
EnsemblGeneIds (GRCh37): ENSG00000126524
OMIM: 607444, Gene2Phenotype
SBDS is in 14 panels

6 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Created: 17 Sep 2019, 3:18 p.m.
Last Modified: 17 Sep 2019, 3:18 p.m.
Panel version: Imported from Primary immunodeficiency panel version 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Created: 17 Sep 2019, 3:18 p.m.
Last Modified: 17 Sep 2019, 3:18 p.m.
Panel version: Imported from Primary immunodeficiency panel version 1.94

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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 Motility
Created: 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-syndrome
Created: 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: ENST00000246868
Created: 17 Apr 2018, 12:12 p.m.
Created: 17 Apr 2018, 12:12 p.m.

Panel version: Imported from Primary immunodeficiency panel version 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Shwachman-Diamond syndrome

Created: 5 Nov 2017, 2:38 a.m.

Panel version: Imported from Primary immunodeficiency panel version Imported from Congenital neutropaenia panel version 0

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

Created: 5 Nov 2017, 2:38 a.m.

Panel version: Imported from Primary immunodeficiency panel version Imported from Congenital neutropaenia panel version 0

Sarah Leigh (Genomics England Curator)

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.
Created: 25 May 2016, 9:41 a.m.

Panel version: Imported from Primary immunodeficiency panel version Imported from Congenital neutropaenia panel version 0.61

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Congenital neutropaenia v1.22
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • Congenital neutropaenia v1.22
Phenotypes
  • Shwachman-Bodian-Diamond syndrome
  • Shwachman-Diamond-syndrome
  • Shwachman-Diamond syndrome, 260400
  • Congenital defects of phagocyte number or function
  • Pancytopenia, exocrine pancreatic insufficiency, chondrodysplasia
OMIM
607444
Clinvar variants
Variants in SBDS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: SBDS was added gene: SBDS was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,Congenital neutropaenia v1.22,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SBDS were set to 14749921; 12496757; 11342425 Phenotypes for gene: SBDS were set to Shwachman-Bodian-Diamond syndrome; Shwachman-Diamond-syndrome; Shwachman-Diamond syndrome, 260400; Congenital defects of phagocyte number or function; Pancytopenia, exocrine pancreatic insufficiency, chondrodysplasia