Groopman et al 2019 - Genes with diagnostic variants
Gene: SLC3A1

SLC3A1 (solute carrier family 3 member 1)
EnsemblGeneIds (GRCh38): ENSG00000138079
EnsemblGeneIds (GRCh37): ENSG00000138079
OMIM: 104614, Gene2Phenotype
SLC3A1 is in 4 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

From Groopman et al 2019 Table S7. Gene symbol: SLC3A1; Inheritance: AR and AD; Clinical diagnosis: Congenital or cystic renal disease; Hypertensive nephropathy; Tubulointerstitial disease; Genetic diagnosis: Cystinuria; OMIM phenotype MIM no.: 220100; Number of cases: 2 (1 compound heterozygous; 1 heterozygous)
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.

Panel Version: 0.4

Created: 2 Jul 2019, 9:46 p.m.
Last Modified: 2 Jul 2019, 9:46 p.m.
Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Exper review amber
Literature

Phenotypes

Tubulointerstitial disease
Congenital or cystic renal disease
Hypertensive nephropathy
Cystinuria
MIM 220100

OMIM

104614

Clinvar variants

Variants in SLC3A1

Penetrance

None

Panels with this gene

History Filter Activity

2 Jul 2019, Gel status: 2

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Amber was added to SLC3A1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

2 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: SLC3A1 was added gene: SLC3A1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Exper review amber Mode of inheritance for gene: SLC3A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC3A1 were set to Tubulointerstitial disease; Congenital or cystic renal disease; Hypertensive nephropathy; Cystinuria; MIM 220100

Groopman et al 2019 - Genes with diagnostic variants Gene: SLC3A1