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  3. NRIP1
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Fetal anomalies

Gene: NRIP1

Amber List (moderate evidence)
NRIP1 (nuclear receptor interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000180530
EnsemblGeneIds (GRCh37): ENSG00000180530
OMIM: 602490, Gene2Phenotype
NRIP1 is in 1 panel

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Tessa Homfray (Consultant HNS)

I don't know

NRIP1 Nuclear ~Receptor Interacting Protein 1 coregulator protein that controls gene transcription and retinoic acid signallingAbnormal protein did not translocate to nucleus and did not interact with RARaCAKUT. Wait for more cases but a relevant phenotype
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital anomalies of kidney and urinary tract 3, OMIM:618270; congenital anomalies of kidney and urinary tract 3, MONDO:0032646

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Congenital anomalies of kidney and urinary tract 3, OMIM:618270
  • congenital anomalies of kidney and urinary tract 3, MONDO:0032646
OMIM
602490
Clinvar variants
Variants in NRIP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ida Ertmanska (Genomics England Curator)

gene: NRIP1 was added gene: NRIP1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: NRIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NRIP1 were set to 41868040; 34525250; 28381549 Phenotypes for gene: NRIP1 were set to Congenital anomalies of kidney and urinary tract 3, OMIM:618270; congenital anomalies of kidney and urinary tract 3, MONDO:0032646