IUGR and IGF abnormalities
Gene: RNPC3Comment on list classification: Promoted from Amber to Green. PMID:33650182 a third case reported with growth failure and ID. There is now enough evidence to support a gene-disease association.Created: 3 Dec 2021, 11:35 a.m. | Last Modified: 3 Dec 2021, 11:35 a.m.
Panel Version: 1.49
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
Comment on list classification: Only one family reported to date. Insufficient evidence for green list on current evidenceCreated: 2 May 2016, 9:31 p.m.
Gene: rnpc3 has been classified as Green List (High Evidence).
Publications for gene: RNPC3 were set to 24480542; 29866761; 32462814
Phenotypes for gene: RNPC3 were changed from isolated growth hormone deficiency; ?Growth hormone deficiency, isolated, type V, 618160 to Pituitary hormone deficiency, combined or isolated, 7, OMIM:618160
Gene: rnpc3 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: RNPC3 were changed from isolated growth hormone deficiency to isolated growth hormone deficiency; ?Growth hormone deficiency, isolated, type V, 618160
Publications for gene: RNPC3 were set to 24480542
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
RNPC3 was created by PhilMurray
RNPC3 was added to IUGR and IGF abnormalitiespanel. Sources: Literature