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Primary immunodeficiency

Gene: SLC37A4

Green List (high evidence)

SLC37A4 (solute carrier family 37 member 4)
EnsemblGeneIds (GRCh38): ENSG00000137700
EnsemblGeneIds (GRCh37): ENSG00000137700
OMIM: 602671, Gene2Phenotype
SLC37A4 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

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

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): 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 Neutropenias
Created: 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: ENST00000357590
Created: 17 Apr 2018, 12:12 p.m.

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
glycogen storage disease with or without neutropenia

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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
  • GOSH PID v.8.0
  • Congenital neutropaenia v1.22
Phenotypes
  • 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
OMIM
602671
Clinvar variants
Variants in SLC37A4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SLC37A4.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to SLC37A4.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to SLC37A4.

12 Jul 2018, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

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.

1 Jul 2018, Gel status: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

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

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to SLC37A4. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to SLC37A4. Panel: Primary immunodeficiency disorders

13 Jun 2018, Gel status: 4

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: slc37a4 has been classified as Green List (High Evidence).

20 Apr 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

17 Apr 2018, Gel status: 4

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

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)

17 Apr 2018, Gel status: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene SLC37A4 were set to Glycogen storage disease Ic, Glycogen storage disease Ib, 232220, Glycogen storage disease Ib

17 Apr 2018, Gel status: 4

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

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

6 Apr 2018, Gel status: 4

Clear Sources

Louise Daugherty (Genomics England Curator)

SLC37A4 Source: GOSH PID 20171193 was removed from gene: SLC37A4

6 Apr 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

GOSH PID v.8.0 was added to SLC37A4. Panel: Primary immunodeficiency disorders

29 Mar 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

GOSH PID 20171193 was added to SLC37A4. Panel: Primary immunodeficiency disorders

29 Mar 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

SLC37A4 was added to Primary immunodeficiency disorders panel. Sources: Expert Review Green, Congenital neutropaenia v1.22

29 Mar 2018, Gel status: 4

Created

Louise Daugherty (Genomics England Curator)

SLC37A4 was created by Louise Daugherty