Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic

Gene: REN

Green List (high evidence)

Well established gene disease association.

Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios. Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects.
Sources: Expert list

Created: 30 Nov 2022, 10:47 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Renal tubular dysgenesis, MIM# 267430

Publications

• PMID: 16116425

Green List (high evidence)

Bi-allelic LOF variants cause renal tubular dysgenesis. Mono-allelic variants, likely through a different mechanism (mostly missense) cause tubulointerstitial disease. More severe phenotype associated with variants that are located in the protein leader peptide and affecting its co-translational insertion in the endoplasmic reticulum (ER).

Created: 22 Jul 2020, 9:38 p.m. | Last Modified: 22 Jul 2020, 9:38 p.m.

Panel Version: 0.3469

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Renal tubular dysgenesis, MIM# 267430; Autosomal dominant tubulointerstitial disease

Publications

• 16116425
• 31586593
• 31406136
• 28701203
• 21473025