HPSE2:Ensemblv90

heparanase 2 (inactive)
OMIM: 613469, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green HPSE2 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
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Urofacial syndrome 1 MIM#236730

    Green HPSE2 in Mendeliome


    Version 1.3802

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Urofacial syndrome 1 MIM#236730

    Green HPSE2 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.111

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Urofacial syndrome 1, 236730 (3)

    Green HPSE2 in Fetal anomalies


    Version 1.482

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Urofacial syndrome 1 MIM#236730

    Green HPSE2 in Prepair 1000+


    Level 2: Screening
    Version 2.15

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Urofacial syndrome 1 MIM#236730

    Green HPSE2 in Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic


    Level 2: Renal and urinary tract disorders
    Version 1.0

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Urofacial syndrome 1 MIM#236730

    Green HPSE2 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 1.0

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Mackenzie's Mission
    • Expert Review Green
    Phenotypes
    • Urofacial syndrome 1, 236730 (3)

    Green HPSE2 in Prepair 1000+


    Level 2: Screening
    Version 3.0

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Mackenzie's Mission
    • Expert Review Green
    Phenotypes
    • Urofacial syndrome 1 MIM#236730