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  3. RNPC3
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Fetal anomalies

Gene: RNPC3

Amber List (moderate evidence)
RNPC3 (RNA binding region (RNP1, RRM) containing 3)
EnsemblGeneIds (GRCh38): ENSG00000185946
EnsemblGeneIds (GRCh37): ENSG00000185946
RNPC3 is in 7 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.148

Esther Kinning (NHS Greater Glasgow and Clyde)

I don't know

35792517- one case age 20 , severe growth failure, pit hormone def. 34906446-15 patients with pituitary hormone def. 33650182- 1 patient primordial dwarfism and ID, couldn t get full text to see if antenatal phenotype. 32462814- 3 sibs with postnatal growth retardation and pituitary hormone def. No evidence of prenatal phenotype
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pituitary hormone deficiency, combined or isolated, 7, OMIM:618160

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Pituitary hormone deficiency, combined or isolated, 7, OMIM:618160
Clinvar variants
Variants in RNPC3
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Pituitary hormone deficiency, combined or isolated, 7, OMIM:618160 for gene: RNPC3

9 Mar 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: RNPC3 was added gene: RNPC3 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: RNPC3 was set to BIALLELIC, autosomal or pseudoautosomal