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  2. Renal Tubulopathies and related disorders
  3. SLC7A9
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Renal Tubulopathies and related disorders

Gene: SLC7A9

Green List (high evidence)
SLC7A9 (solute carrier family 7 member 9)
EnsemblGeneIds (GRCh38): ENSG00000021488
EnsemblGeneIds (GRCh37): ENSG00000021488
OMIM: 604144, Gene2Phenotype
SLC7A9 is in 5 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Well established gene-disease association.
Created: 2 Dec 2022, 12:21 a.m. | Last Modified: 2 Dec 2022, 12:21 a.m.
Panel Version: 0.16

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cystinuria, MIM# 220100

Publications

Created: 2 Dec 2022, 12:21 a.m.
Last Modified: 2 Dec 2022, 12:21 a.m.
Panel version: 0.16

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cystinuria, MIM# 220100
OMIM
604144
Clinvar variants
Variants in SLC7A9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC7A9 was added gene: SLC7A9 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: SLC7A9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC7A9 were set to 10471498 Phenotypes for gene: SLC7A9 were set to Cystinuria, MIM# 220100