CAKUT

Gene: HPSE2

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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.

Green List (high evidence)

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

• 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.