Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
Gene: NR6A1
6 unrelated families with heterozygous rare variants (missense, nonsense, frameshift, or large deletion) with incomplete penetrance and variable expressivity. Colobomatous microphthalmia, missing vertebrae and congenital kidney abnormalities characterised the phenotype of the families. Also, supporting zebrafish model. Loss of function is the expected mechanism of disease.
Sources: LiteratureCreated: 4 Feb 2025, 6:05 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Craniofacial microsomia MONDO:0015397
Publications
Gene: nr6a1 has been classified as Green List (High Evidence).
Gene: nr6a1 has been classified as Green List (High Evidence).
gene: NR6A1 was added gene: NR6A1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature Mode of inheritance for gene: NR6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NR6A1 were set to 39606382 Phenotypes for gene: NR6A1 were set to Craniofacial microsomia MONDO:0015397 Review for gene: NR6A1 was set to GREEN