Genomics England
GMS Panels
Panels
Genes and Entities

HPSE2

heparanase 2 (inactive)
OMIM: 613469
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
UROFACIAL SYNDROME 236730
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
UROFACIAL SYNDROME
Green
in Unexplained young onset end-stage renal disease - additional genes
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Urofacial syndrome 1, OMIM:236730, Congenital bladder disease: dyssynergic, high pressure bladder