Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
Gene: NR6A1EnsemblGeneIds (GRCh38): ENSG00000148200
EnsemblGeneIds (GRCh37): ENSG00000148200
OMIM: 602778, Gene2Phenotype
NR6A1 is in 3 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Craniofacial microsomia MONDO:0015397
- OMIM
- 602778
- Clinvar variants
- Variants in NR6A1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: nr6a1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: nr6a1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)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