IUGR and IGF abnormalities

Gene: RNPC3

Amber List (moderate evidence)

RNPC3 (RNA binding region (RNP1, RRM) containing 3)
EnsemblGeneIds (GRCh38): ENSG00000185946
EnsemblGeneIds (GRCh37): ENSG00000185946
RNPC3 is in 5 panels

3 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: This gene has been promoted from Red to Amber based on the evidence provided below.

Comments copied from Growth failure in early childhood (Version 1.13):
"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.
Ivone Leong (Genomics England Curator), 15 Oct 2020"

"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.

Zornitza Stark (Australian Genomics), 5 Oct 2020"
Created: 15 Oct 2020, 9:03 a.m. | Last Modified: 15 Oct 2020, 9:03 a.m.
Panel Version: 1.33

Philip Murray (University of Manchester)

Green List (high evidence)

Richard Scott (Genomics England Curator)

Comment on list classification: Only one family reported to date. Insufficient evidence for green list on current evidence
Created: 2 May 2016, 9:31 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • isolated growth hormone deficiency
  • ?Growth hormone deficiency, isolated, type V, 618160
Clinvar variants
Variants in RNPC3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

15 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: rnpc3 has been classified as Amber List (Moderate Evidence).

15 Oct 2020, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: RNPC3 were changed from isolated growth hormone deficiency to isolated growth hormone deficiency; ?Growth hormone deficiency, isolated, type V, 618160

15 Oct 2020, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: RNPC3 were set to 24480542

2 May 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

2 May 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

25 Oct 2015, Gel status: 0

Created

Philip Murray (University of Manchester)

RNPC3 was created by PhilMurray

25 Oct 2015, Gel status: 0

Added New Source

Philip Murray (University of Manchester)

RNPC3 was added to IUGR and IGF abnormalitiespanel. Sources: Literature