Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
Gene: PBX1
Multiple patients wit CAKUT with heterozygous variants in PBX1. In vitro functional expression studies of 5 of the mutations showed variable disturbances in protein function. Pbx1-null mouse embryos died at about E15.5. The kidneys were reduced in size and axially mispositioned, had fewer nephrons than controls, and sometimes showed unilateral agenesis.Created: 14 Jan 2022, 2:47 a.m. | Last Modified: 14 Jan 2022, 2:47 a.m.
Panel Version: 0.102
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM #617641
Publications
CAKUTHED is an autosomal dominant highly pleiotropic developmental disorder characterized mainly by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear, often with hearing loss. Most individuals have global developmental delay. More than 10 unrelated families reported.Created: 2 Aug 2021, 10:49 a.m. | Last Modified: 2 Aug 2021, 10:49 a.m.
Panel Version: 0.8608
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, MIM# 617641
Publications
Gene: pbx1 has been classified as Green List (High Evidence).
Phenotypes for gene: PBX1 were changed from to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM #617641
Publications for gene: PBX1 were set to
Mode of inheritance for gene: PBX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: PBX1 was added gene: PBX1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PBX1 was set to Unknown