Renal and urinary tract disorders
Gene: HPSE2
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
Adrian Woolf: Gene trap mutant mouse model c
Phenotypes for gene: HPSE2 were changed from Urofacial syndrome 1; Urofacial Syndrome; Congenital bladder disease: dyssynergic, high pressure bladder to Urofacial syndrome 1 236730; Urofacial Syndrome; Congenital bladder disease: dyssynergic, high pressure bladder
Added phenotypes Urofacial syndrome 1 for gene: HPSE2 Publications for gene HPSE2 were changed from Daly SB, Urquhart JE, Hilton E, McKenzie EA, Kammerer RA, Lewis M, Kerr B, Stuart H, Donnai D, Long DA, Burgu B, Aydogdu O, Derbent M, Garcia-Minaur S, Reardon W, Gener B, Shalev S, Smith R, Woolf AS, Black GC, Newman WG. Mutations in HPSE2 cause urofacial syndrome. Am J Hum Genet 11:963-969, 2010. to 20560209; 20560210
gene: HPSE2 was added gene: HPSE2 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: HPSE2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPSE2 were set to Daly SB, Urquhart JE, Hilton E, McKenzie EA, Kammerer RA, Lewis M, Kerr B, Stuart H, Donnai D, Long DA, Burgu B, Aydogdu O, Derbent M, Garcia-Minaur S, Reardon W, Gener B, Shalev S, Smith R, Woolf AS, Black GC, Newman WG. Mutations in HPSE2 cause urofacial syndrome. Am J Hum Genet 11:963-969, 2010. Phenotypes for gene: HPSE2 were set to Urofacial Syndrome; Congenital bladder disease: dyssynergic, high pressure bladder