SLC9A3R1

SLC9A3 regulator 1
OMIM: 604990, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red SLC9A3R1 in Hypercalcaemia


Level 2: Endocrine disorders
Version 1.2

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287

Red SLC9A3R1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287
Tags
  • refuted

Red SLC9A3R1 in Calcium and Phosphate disorders


Level 2: Renal and urinary tract disorders; Endocrine disorders
Version 1.24

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • KidGen_CalcPhos v38.1.0
Phenotypes
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287

Red SLC9A3R1 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 2

Red SLC9A3R1 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 2

Red SLC9A3R1 in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 1.14

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • KidGen_CalcPhos v38.1.0
    • Victorian Clinical Genetics Services
    Phenotypes
    • Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287
    Tags
    • refuted