Renal and urinary tract disorders
Gene: HPSE2EnsemblGeneIds (GRCh38): ENSG00000172987
EnsemblGeneIds (GRCh37): ENSG00000172987
OMIM: 613469, Gene2Phenotype
HPSE2 is in 6 panels
4 reviews
Helen Stuart (University of Manchester)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 4 Aug 2016, 1:42 p.m.
Ellen McDonagh (Genomics England Curator)
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.
Adrian Woolf (Professor of Paediatric Scicence, Univerisity of Manchester)
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Urofacial syndrome 1 236730
- Urofacial Syndrome
- Congenital bladder disease: dyssynergic, high pressure bladder
- OMIM
- 613469
- Clinvar variants
- Variants in HPSE2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Adrian Woolf: Gene trap mutant mouse model c
Set Phenotypes
Eleanor Williams (Genomics England Curator)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
Set Phenotypes, Set publications
Ellen McDonagh (Genomics England Curator)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
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)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