Groopman et al 2019 - Genes with diagnostic variants
Gene: SLC7A9

SLC7A9 (solute carrier family 7 member 9)
EnsemblGeneIds (GRCh38): ENSG00000021488
EnsemblGeneIds (GRCh37): ENSG00000021488
OMIM: 604144, Gene2Phenotype
SLC7A9 is in 4 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

From Groopman et al 2019 Table S7. Gene symbol: SLC7A9; Inheritance: AD; Clinical diagnosis: Tubulointerstitial disease; Genetic diagnosis: Cystinuria; OMIM phenotype MIM No.: 220100; Number of cases: 1
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

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red
Expert review red
Literature

Phenotypes

Tubulointerstitial disease
Cystinuria
MIM 220100

OMIM

604144

Clinvar variants

Variants in SLC7A9

Penetrance

None

Panels with this gene

History Filter Activity

2 Jul 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source Expert Review Red was added to SLC7A9.

2 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: SLC7A9 was added gene: SLC7A9 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: SLC7A9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC7A9 were set to Tubulointerstitial disease; Cystinuria; MIM 220100

Groopman et al 2019 - Genes with diagnostic variants Gene: SLC7A9