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Phagocyte Defects

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 18 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Neutropaenia is a feature.
Created: 28 Jul 2021, 4:03 a.m. | Last Modified: 28 Jul 2021, 4:03 a.m.
Panel Version: 0.117

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease Ib, MIM# 232220

Created: 28 Jul 2021, 4:03 a.m.
Last Modified: 28 Jul 2021, 4:03 a.m.
Panel version: 0.117

History Filter Activity

28 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC37A4 were changed from to Glycogen storage disease Ib, MIM# 232220

28 Jul 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC37A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC37A4 was added gene: SLC37A4 was added to Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: SLC37A4 was set to Unknown