IUGR and IGF abnormalities

Gene: RNPC3

Comment 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

Green List (high evidence)

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.