Renal Ciliopathies and Nephronophthisis
Gene: INVS
17 patients with nephronophthisis summarised in PMID:19177160. Median age at diagnosis 11 months. End stage renal disease developed in all but 2 at 2 years of age. Hypertension was a consistent finding. Hypperechogenic kidneys were present in all but 1 case. Kidney size was variable. Cysts were detected in 5/15 patients.
Extra renal manifestations were found in 12/17 patients - heart valve or septal defects (5), hepatic involvement (4), recurrent bronchial infections (4), dev delay (2), situs inversus (2).Created: 17 Mar 2021, 7:08 a.m. | Last Modified: 17 Mar 2021, 7:08 a.m.
Panel Version: 0.125
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 2, infantile, (MIM#602088)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: invs has been classified as Green List (High Evidence).
Phenotypes for gene: INVS were changed from to Nephronophthisis 2, infantile, (MIM#602088)
Publications for gene: INVS were set to
Mode of inheritance for gene: INVS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: INVS was added gene: INVS was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: INVS was set to Unknown