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Unexplained young onset end-stage renal disease v0.2 HPSE2 Eleanor Williams reviewed gene: HPSE2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.1 HPSE2 Eleanor Williams gene: HPSE2 was added
gene: HPSE2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: HPSE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPSE2 were set to 20560210; 20560209
Phenotypes for gene: HPSE2 were set to Congenital bladder disease: dyssynergic, high pressure bladder; Urofacial syndrome 1 236730; Urofacial Syndrome