Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: SLC37A4
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): G6PT1 .PanelApp HGNC gene symbol check: SLC37A4 . IUIS Disease: Glycogen storage disease type 1b . IUIS Inheritance: AR .T cells: Normal total T cells, TCR activation impaired, .B cells: N/A, .IUIS Other affected cells: N + M. IUIS Associated features: Fasting hypoglycemia, lactic acidosis, hyperlipidemia, hepatomegaly. IUIS Major category: Congenital defects of phagocyte number or function. IUIS Subcategory: Congenital NeutropeniasCreated: 2 Jul 2018, 10:35 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: G6PT1, PanelApp HGNC gene symbol check: SLC37A4, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Phagocytic disorders / Glycogen storage disease type 1b (GS1b) / Glycogen storage disease type 1b (GS1b)Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: SLC37A4, GRID_Gene_Symbol: SLC37A4, GRID_Transcript_ENS_Community submitted: ENST00000357590, GRID_Transcript_RefSeq: NM_001164277.1, GRID_Transcript_ENS_used_on_Production: ENST00000357590Created: 17 Apr 2018, 12:12 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
glycogen storage disease with or without neutropenia
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Two expert reviewers recommend Green, Found in 3/4 sources. Numerous variants reported in literature.Created: 25 May 2016, 9:49 a.m.
Phenotypes for gene: SLC37A4 were changed from Glycogen storage disease Ic; Glycogen storage disease Ib, 232220; Glycogen storage disease Ib; Glycogen storage disease type 1b (GS1b); Glycogen storage disease with or without neutropenia; Fasting hypoglycemia, lactic acidosis, hyperlipidemia, hepatomegaly; Congenital defects of phagocyte number or function to Glycogen storage disease Ib, OMIM:232220; Glycogen storage disease Ic, OMIM:232240; Fasting hypoglycemia, lactic acidosis, hyperlipidemia, hepatomegaly; Congenital defects of phagocyte number or function
Source NHS GMS was added to SLC37A4.
Source North West GLH was added to SLC37A4.
Source London North GLH was added to SLC37A4.
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 SLC37A4 were set to Glycogen storage disease Ic, Glycogen storage disease Ib, 232220, Glycogen storage disease Ib, Glycogen storage disease type 1b (GS1b), Glycogen storage disease with or without neutropenia, Fasting hypoglycemia, lactic acidosis, hyperlipidemia, hepatomegaly, Congenital defects of phagocyte number or function
IUIS Classification February 2018 was added to SLC37A4. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to SLC37A4. Panel: Primary immunodeficiency disorders
Gene: slc37a4 has been classified as Green List (High Evidence).
Phenotypes for SLC37A4 were set to Glycogen storage disease Ic; Glycogen storage disease Ib, 232220; Glycogen storage disease Ib; Glycogen storage disease type 1b (GS1b); Glycogen storage disease with or without neutropenia
ESID Registry 20171117 was added to SLC37A4. Panel: Primary immunodeficiency disorders Phenotypes for gene SLC37A4 were set to Glycogen storage disease Ic, Glycogen storage disease Ib, 232220, Glycogen storage disease Ib, Glycogen storage disease type 1b (GS1b)
Phenotypes for gene SLC37A4 were set to Glycogen storage disease Ic, Glycogen storage disease Ib, 232220, Glycogen storage disease Ib
GRID V2.0 was added to SLC37A4. Panel: Primary immunodeficiency disorders Phenotypes for gene SLC37A4 were set to Glycogen storage disease Ic, Glycogen storage disease Ib, 232220, Glycogen storage disease Ib
SLC37A4 Source: GOSH PID 20171193 was removed from gene: SLC37A4
GOSH PID v.8.0 was added to SLC37A4. Panel: Primary immunodeficiency disorders
GOSH PID 20171193 was added to SLC37A4. Panel: Primary immunodeficiency disorders
SLC37A4 was added to Primary immunodeficiency disorders panel. Sources: Expert Review Green, Congenital neutropaenia v1.22
SLC37A4 was created by Louise Daugherty