Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Gene: HPSE2
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
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
Gene: hpse2 has been classified as Green List (High Evidence).
Phenotypes for gene: HPSE2 were changed from to Urofacial syndrome 1 MIM#236730
Publications for gene: HPSE2 were set to
Mode of inheritance for gene: HPSE2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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