Unexplained young onset end-stage renal disease - additional genes

Gene: HPSE2

Green List (high evidence)

This gene has been added to this panel with green rating as it was present in R257 Unexplained young onset end-stage renal disease panel (v5.1) with the same rating before it was made a super panel.

Created: 25 Sep 2024, 9:36 p.m. | Last Modified: 25 Sep 2024, 9:36 p.m.

Panel Version: 0.65

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

I don't know

Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of Green

Created: 9 Apr 2019, 11:17 a.m.

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported

Created: 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.

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.