HPSE2

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

5 panels

Panel Reviews Mode of inheritance Details
5 panels

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


Level 2: Renal and urinary tract disorders
Version 1.0

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

Green HPSE2 in Mendeliome


Version 2.0

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 1.0

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 2.0

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 3.0

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