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

Gene: SHROOM4

Green List (high evidence)

Six individuals from four unrelated families with CAKUT. Embryonic mouse and zebrafish expression studies showed Shroom4 expression in the upper and lower urinary tract, the developing cloaca, the heart and the cerebral CNS. KD studies in zebrafish larvae revealed pronephric cysts, anomalies of the cloaca and the heart, decreased eye-to-head ratio and higher mortality compared with controls. These phenotypes could be rescued by co-injection of human wild-type SHROOM4 mRNA and morpholino. Variants included one missense, one splice variant and two CNVs (deletions).
Sources: Literature

Created: 1 Dec 2022, 3:40 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Congenital anomaly of the kidney and urinary tracy (CAKUT), SHROOM4-related, MONDO:0019719

Publications

• 36379543

I don't know

Two families only.

Created: 18 Feb 2020, 7:27 a.m. | Last Modified: 18 Feb 2020, 7:27 a.m.

Panel Version: 0.1382

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Stocco dos Santos X-linked mental retardation syndrome, 300434; Intellectual disability

Publications

• 16249884
• 26740508