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Inborn errors of metabolism

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 11 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Glycogen storage disease Ic, 232240
  • Glycogen storage disease Ib, 232220
  • Glycogen Storage Disease Type I
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disease
  • Glycogen Storage Disease Ib and Ic
  • Glycogen storage disease type 1b, von Gierke (Glycogen storage disorders)
  • heptomgaly, feed intolerance , inflammatory bowel disease, neutropenia
OMIM
602671
Clinvar variants
Variants in SLC37A4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SLC37A4. Source London North GLH was added to SLC37A4.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: SLC37A4 was added gene: SLC37A4 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC37A4 were set to 27604308 Phenotypes for gene: SLC37A4 were set to Glycogen storage disease Ic, 232240; Glycogen storage disease Ib, 232220; Glycogen Storage Disease Type I; Glycogen Storage Disorders- Liver; Glycogen Storage Disease; Glycogen Storage Disease Ib and Ic; Glycogen storage disease type 1b, von Gierke (Glycogen storage disorders); heptomgaly, feed intolerance , inflammatory bowel disease, neutropenia