Table 3 Genes with sufficient evidence to support a phenotypic expansion involving CAKUT.

From: Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+)

Gene

CAKUT-Specific Rank Annotation Score

Phenotypes (MIM#), Inheritance

CAKUT Cases (This Study)

CAKUT Cases (Literature)

Mouse Urinary Tract Expression (MGI)

Transgenic Mice with CAKUT Phenotypes? (MGI/DMDD/IMPC)

ADNP

85.6%

Helsmoortel-van der Aa syndrome (615873), AD

Total 4: (1D) Renal duplication (1Pv) Polycystic kidney disease (1Pv) Vesicoureteral reflux (1D) Bilateral hydronephrosis

Total 7: (1D) Renal agenesis48 (6I) Renal anomalies51

Yes

Not Reported

PHIP

62.2%

Chung-Jansen syndrome (617991), AD

Total 5: (1D) Vesicoureteral reflux (1D) Horseshoe kidney, ureteropelvic junction obstruction (1Pr) Ureteral hypoplasia (1Pv) Renal malrotation (1Pv) Hydronephrosis

Total 12: (2D-1Pr) Vesicoureteral reflux57,58 (1Pr) Renal agenesis59 (1Pr) Ureterocele55 (1D-2I) Renal hypoplasia57,60 (1D) Ureterovesical junction obstruction57 (1D-1I) Horseshoe kidney58 (1Pr) Atrophic kidney58

Yes

Yes: Enlarged bladder

SETD5

85.2%

Intellectual disability, autosomal dominant 23, (615761), AD

Total 4: (1D) Renal agenesis (1Pv) Multicystic dysplastic kidney, renal dysplasia, vesicoureteral reflux (1D) Hydronephrosis (1D) Kidney abnormalities

Total 1: (1D) Posterior urethral valves63

Yes

Yes: Small kidneys

  1. AD Autosomal dominant, D Definitive, DMDD Deciphering the Mechanisms of Developmental Disorders, I Insufficient information to determine diagnostic certainty, IMPC International Mouse Phenotyping Consortium, MGI Mouse Genome Informatics, MIM Oline Mendelian Inheritance in Man, Pr Probable, Pv Provisional.
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