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Cataract

Gene: SLC37A4

Red List (low evidence)
SLC37A4 (solute carrier family 37 member 4)
EnsemblGeneIds (GRCh38): ENSG00000137700
EnsemblGeneIds (GRCh37): ENSG00000137700
OMIM: 602671, Gene2Phenotype
SLC37A4 is in 18 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

No evidence cataracts is a feature of conditions caused by this gene.
Created: 15 Apr 2020, 4:30 a.m. | Last Modified: 15 Apr 2020, 4:30 a.m.
Panel Version: 0.128

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease Ib MIM#232220; Glycogen storage disease Ic MIM#232240

Created: 15 Apr 2020, 4:30 a.m.
Last Modified: 15 Apr 2020, 4:30 a.m.
Panel version: 0.128

History Filter Activity

15 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: slc37a4 has been classified as Red List (Low Evidence).

15 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: slc37a4 has been classified as Red List (Low Evidence).

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 Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC37A4 was set to Unknown