1. Panels
  2. Prepair 1000+
  3. HPSE2
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

Gene: HPSE2

Green List (high evidence)
HPSE2 (heparanase 2 (inactive))
EnsemblGeneIds (GRCh38): ENSG00000172987
EnsemblGeneIds (GRCh37): ENSG00000172987
OMIM: 613469, Gene2Phenotype
HPSE2 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Urinary voiding dysfunction can lead to renal failure.
Created: 25 Jul 2024, 1:21 a.m. | Last Modified: 25 Jul 2024, 1:21 a.m.
Panel Version: 1.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Urofacial syndrome 1 MIM#236730

Created: 25 Jul 2024, 1:21 a.m.
Last Modified: 25 Jul 2024, 1:21 a.m.
Panel version: 1.11

Lauren Rogers (Victorian Clinical Genetics Services)

Green List (high evidence)

The main features of urofacial syndrome (UFS) are congenital urinary bladder voiding dysfunction and an abnormality of facial movement with expression that can be observed from birth.
UFS can manifest from the prenatal period, where ultrasound can find a fetal megabladder, hydroureter, and/or hydronephrosis

At least 17 families reported (GeneReviews)
Created: 19 Jul 2024, 6:48 a.m. | Last Modified: 19 Jul 2024, 6:48 a.m.
Panel Version: 1.9

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Urofacial syndrome 1 MIM#236730

Publications

Created: 19 Jul 2024, 6:48 a.m.
Last Modified: 19 Jul 2024, 6:48 a.m.
Panel version: 1.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Urofacial syndrome 1 MIM#236730
OMIM
613469
Clinvar variants
Variants in HPSE2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hpse2 has been classified as Green List (High Evidence).

25 Jul 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HPSE2 were changed from Urofacial syndrome 1, 236730 (3) to Urofacial syndrome 1 MIM#236730

25 Jul 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HPSE2 were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HPSE2 was added gene: HPSE2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HPSE2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPSE2 were set to Urofacial syndrome 1, 236730 (3)