SLC7A9

solute carrier family 7 member 9
OMIM: 604144, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green SLC7A9 in Mendeliome


Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cystinuria, MIM# 220100

Green SLC7A9 in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Cystinuria

Green SLC7A9 in Aminoacidopathy


Level 2: Metabolic disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • cystinuria MONDO:0009067

Red SLC7A9 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Cystinuria, MIM# 220100
Tags
  • for review

Green SLC7A9 in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cystinuria, MIM# 220100