SLC20A1

solute carrier family 20 member 1
OMIM: 137570, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green SLC20A1 in Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic


Level 2: Renal and urinary tract disorders
Version 0.146

Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Bladder-Exstrophy-Epispadias Complex (BEEC), MONDO:0017919, SLC20A1-related

    Green SLC20A1 in Differences of Sex Development


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.27

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Bladder-Exstrophy-Epispadias Complex (BEEC), MONDO:0017919, SLC20A1-related

    Green SLC20A1 in Mendeliome


    Version 1.3802

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bladder-Exstrophy-Epispadias Complex (BEEC), MONDO:0017919, SLC20A1-related

    Red SLC20A1 in Pituitary hormone deficiency

    Level 3: Pituitary disorders
    Level 2: Endocrine disorders
    Version 0.166

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bladder-Exstrophy-Epispadias Complex (BEEC)

    Green SLC20A1 in Fetal anomalies


    Version 1.482

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Bladder-Exstrophy-Epispadias Complex (BEEC), MONDO:0017919, SLC20A1-related