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  2. Monogenic short stature
  3. RNPC3
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Monogenic short stature

Gene: RNPC3

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

6 reviews

Ida Ertmanska (Genomics England Curator)

Red List (low evidence)

The rating of this gene has been updated to red following NHS Genomic Medicine Service approval.
Created: 11 Dec 2025, 1:25 p.m. | Last Modified: 11 Dec 2025, 1:25 p.m.
Panel Version: 1.27
Created: 11 Dec 2025, 1:25 p.m.
Last Modified: 11 Dec 2025, 1:25 p.m.
Panel version: 1.27

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

RNPC3 variants are associated with the condition: pituitary hormone deficiency, combined or isolated, 7 (OMIM:618160).
Based on the comments of Melissa Connolly (WMRGL GLH), RNPC3 is not relevant to the Monogenic short stature (R453) panel. Therefore, RNPC3 should be demoted to red on this panel. RNPC3 is green on Pituitary hormone deficiency (R159) panel.
Created: 2 Apr 2025, 10:16 a.m. | Last Modified: 2 Apr 2025, 10:16 a.m.
Panel Version: 1.15
Created: 2 Apr 2025, 10:16 a.m.
Last Modified: 2 Apr 2025, 10:16 a.m.
Panel version: 1.15

Melissa Connolly (WMRGL GLH)

Red List (low evidence)

This gene is associated with combined pituitary hormone deficiency and does not belong on a panel for monogenic short stature as there are other better suited panels such as R159 Pituitary Hormone Deficiency panel
Created: 17 Feb 2025, 10:59 a.m. | Last Modified: 17 Feb 2025, 10:59 a.m.
Panel Version: 1.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pituitary hormone deficiency, combined or isolated, 7

Created: 17 Feb 2025, 10:59 a.m.
Last Modified: 17 Feb 2025, 10:59 a.m.
Panel version: 1.1

Catherine Snow (Genomics England)

The rating of this gene has been updated to GREEN following NHS Genomic Medicine Service approval.
Created: 31 Jan 2023, 5:28 p.m. | Last Modified: 31 Jan 2023, 5:28 p.m.
Panel Version: 2.33
Created: 31 Jan 2023, 5:28 p.m.
Last Modified: 31 Jan 2023, 5:28 p.m.
Copied from panel: Growth failure in early childhood v3.77

Ivone Leong (Genomics England Curator)

Green List (high evidence)

There is now enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.
Created: 3 Dec 2021, 11:30 a.m. | Last Modified: 3 Dec 2021, 11:30 a.m.
Panel Version: 1.96
Comment on publications: PMID:33650182 a third case reported with growth failure and second case with ID
Created: 3 Dec 2021, 11:29 a.m. | Last Modified: 3 Dec 2021, 11:43 a.m.
Panel Version: 1.96
Comment on list classification: Based on the available evidence and expert review, this gene has been promoted from Red to Amber. This gene is associated with a relevant phenotype on OMIM.

The family described in PMIDs 24480542 and 29866761 are the same. The 3 sisters in this family had GH deficiency only. PMID: 32462814 had GH deficiency and almost undetectable levels of prolactin as well.
Created: 15 Oct 2020, 9 a.m. | Last Modified: 15 Oct 2020, 9 a.m.
Panel Version: 1.13
Created: 15 Oct 2020, 9 a.m.
Last Modified: 3 Dec 2021, 11:43 a.m.
Copied from panel: Growth failure in early childhood v3.77

Zornitza Stark (Australian Genomics)

I don't know

Two families reported. PMID 29866761: isolated growth deficiency and pituitary hypoplasia. PMID 32462814: growth hormone deficiency, central congenital hypothyroidism, congenital cataract, developmental delay/intellectual deficiency and delayed puberty. Full spectrum of phenotype unclear at present.
Created: 5 Oct 2020, 9:31 a.m. | Last Modified: 5 Oct 2020, 9:31 a.m.
Panel Version: 1.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Growth hormone deficiency

Publications

Created: 5 Oct 2020, 9:31 a.m.
Last Modified: 5 Oct 2020, 9:31 a.m.
Copied from panel: Growth failure in early childhood v3.77

Details

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

History Filter Activity

20 Mar 2026, Gel status: 1

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked was removed from gene: RNPC3.

10 Dec 2025, Gel status: 1

Removed Tag, Removed Tag, Removed Tag

Ida Ertmanska (Genomics England Curator)

Tag Q2_25_ demote_red was removed from gene: RNPC3. Tag Q2_25_expert_review was removed from gene: RNPC3. Tag Q2_25_ phenotype was removed from gene: RNPC3.

10 Dec 2025, Gel status: 1

Added New Source, Status Update

Ida Ertmanska (Genomics England Curator)

Source Expert Review Red was added to RNPC3. Rating Changed from Green List (high evidence) to Red List (low evidence)

2 Apr 2025, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_25_expert_review tag was added to gene: RNPC3.

2 Apr 2025, Gel status: 3

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_25_ demote_red tag was added to gene: RNPC3. Tag Q2_25_ phenotype tag was added to gene: RNPC3.

26 Mar 2024, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: RNPC3 was added gene: RNPC3 was added to Monogenic short stature. Sources: Expert Review Green,NHS GMS gene-checked tags were added to gene: RNPC3. Mode of inheritance for gene: RNPC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNPC3 were set to 24480542; 29866761; 32462814; 33650182 Phenotypes for gene: RNPC3 were set to Pituitary hormone deficiency, combined or isolated, 7, OMIM:618160