Newborns main panel
Gene: SLC37A4

SLC37A4 (solute carrier family 37 member 4)
EnsemblGeneIds (GRCh38): ENSG00000137700
EnsemblGeneIds (GRCh37): ENSG00000137700
OMIM: 602671, Gene2Phenotype
SLC37A4 is in 14 panels

1 review

Mafalda Gomes (Genomics England Curator)

This gene does not have a MANE transcript. The transcript that will be used is ENST00000545985.5 (equivalent to RefSeq NM_001164277) as this is the most widely expressed isoform and is the one that authors use in publications and also ClinVar.
Created: 27 Jul 2023, 12:48 p.m. | Last Modified: 27 Jul 2023, 1:08 p.m.

Panel Version: 0.224

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:39 p.m. | Last Modified: 1 Jun 2023, 2:39 p.m.

Panel Version: 0.137

https://pubmed.ncbi.nlm.nih.gov/30956637/ and PMID:30956637 GSD 1c is distinguished from 1b by a decrease in enzyme latency in isolated microsomes with enhancing G6P concentrations
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.135

Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 27 Jul 2023, 1:08 p.m.
Panel version: 0.224

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Glycogen storage disease type Ib and 1c

Transcripts

ENST00000545985.5
NM_001164277

OMIM

602671

Clinvar variants

Variants in SLC37A4

Penetrance

None

Panels with this gene

History Filter Activity

7 Feb 2024, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: SLC37A4 were changed from Glycogen storage disease Ib and 1c to Glycogen storage disease type Ib and 1c

14 Sep 2023, Gel status: 3