Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: SLC37A4

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

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

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.

Created: 17 Apr 2018, 12:12 p.m.

Panel version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
glycogen storage disease with or without neutropenia

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

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 Congenital neutropaenia panel version 0

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.

Created: 25 May 2016, 9:49 a.m.

Panel version: Imported from Congenital neutropaenia panel version 0.64

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 Ib, OMIM:232220
Glycogen storage disease Ic, OMIM:232240
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

16 Jun 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

17 Sep 2019, Gel status: 3