Unexplained young onset end-stage renal disease
Gene: HPSE2
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of GreenCreated: 9 Apr 2019, 11:17 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 4 Aug 2016, 1:42 p.m.
Comment on list classification: Two reviewers suggesting that this gene should be green. It is a confirmed DD gene for urofacial syndrome.Created: 22 Apr 2016, 11:41 a.m.
Gene trap mutant mouse model confirms bladder phenotype.
Stuart HM, Roberts NA, Hilton EN, McKenzie EA, Daly SB, Hadfield KD, Rahal JS, Gardiner NJ, Tanley SW, Lewis MA, Sites E, Angle B, Alves C, Lourenço T, Rodrigues M, Calado A, Amado M, Guerreiro N,Serras I, Beetz C, Varga R-E, Silay MS, Darlow JM, Dobson MG, Barton DE, Hunziker M, Puri P, Feather SA, Goodship JA, Goodship THJ, Lambert HJ, Cordell HJ, the UK VUR Study Group, Saggar A, Kinali M, the 4C Study Group, Lorenz C, Moeller K, Schaefer F, Bayazit AK, Weber S, Newman WG, Woolf AS. Urinary tract effects of HPSE2 mutations. J Am Soc Nephrol 26:797-804, 2015.Created: 7 Apr 2016, 12:43 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital bladder disease: dyssynergic, high pressure bladder.
Publications
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