SLC41A1

solute carrier family 41 member 1
OMIM: 610801, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red SLC41A1 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephronophthisis-like nephropathy 2, MIM# 619468

Red SLC41A1 in Renal Ciliopathies and Nephronophthisis


Level 2: Renal and urinary tract disorders
Version 1.22

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • KidGen_CilioNephronop v38.1.0
    Phenotypes
    • Nephronophthisis-like nephropathy 2, MIM# 619468

    Red SLC41A1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Nephronophthisis-like nephropathy 2, MIM# 619468

    Red SLC41A1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Nephronophthisis-like nephropathy 2, MIM# 619468