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  3. HPSE2
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Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic

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)

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: 8 Nov 2021, 9:32 a.m. | Last Modified: 8 Nov 2021, 9:32 a.m.
Panel Version: 0.91

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Urofacial syndrome 1 MIM#236730

Publications

Created: 8 Nov 2021, 9:32 a.m.
Last Modified: 8 Nov 2021, 9:32 a.m.
Panel version: 0.91

Ain Roesley (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: 8 Nov 2021, 5:59 a.m. | Last Modified: 8 Nov 2021, 5:59 a.m.
Panel Version: 0.9638

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Urofacial syndrome 1 MIM#236730

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 8 Nov 2021, 5:59 a.m.
Last Modified: 8 Nov 2021, 5:59 a.m.
Panel version: Imported from Mendeliome panel version 0.9638

Details

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

History Filter Activity

8 Nov 2021, 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).

8 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HPSE2 were changed from to Urofacial syndrome 1 MIM#236730

8 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HPSE2 were set to

8 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HPSE2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HPSE2 was added gene: HPSE2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HPSE2 was set to Unknown