1. Genes and Genomic Entities
  2. HPSE2

HPSE2

heparanase 2 (inactive)
OMIM: 613469, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green HPSE2 in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.124

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert Review
Phenotypes
  • Urofacial syndrome 1 236730
Green HPSE2 in CAKUT

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.182

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Urofacial Syndrome
  • Congenital bladder disease: dyssynergic, high pressure bladder
Green HPSE2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.181
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • UROFACIAL SYNDROME
Green HPSE2 in DDG2P


Version 6.447
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • UROFACIAL SYNDROME 236730
    Red HPSE2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.345
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Urofacial syndrome 1, 236730
    Green HPSE2 in Unexplained young onset end-stage renal disease - additional genes


    Level 2: Renal
    Version 1.6
    Latest signed off version: v1.1 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Urofacial syndrome 1, OMIM:236730
    • Congenital bladder disease: dyssynergic, high pressure bladder