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Mendeliome

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)

The association between bi-allelic variants and glycogen storage disease is well established.

New report in PMID 33964207 of recurrent variant in 7 individuals with a dominant CDG, manifesting as liver and coagulation abnormalities.
Created: 11 Jun 2021, 4:22 a.m. | Last Modified: 11 Jun 2021, 4:22 a.m.
Panel Version: 0.7929

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease Ib 232220; Glycogen storage disease Ic 232240; Congenital disorder of glycosylation

Publications

Details

History Filter Activity

11 Jun 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).

11 Jun 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 232220; Glycogen storage disease Ic 232240; Congenital disorder of glycosylation

11 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC37A4 were set to

11 Jun 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 BOTH monoallelic and 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 Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC37A4 was set to Unknown