This gene is an Amber gene on the Growth failure in early childhood panel (v1.16). The following reviews are present for this gene on that panel:
"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"
As only 1 affected family has congenital cataracts, this gene is given a Red rating.
Sources: Expert Review, Literature
Created: 30 Nov 2020, 9:58 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
isolated growth hormone deficiency; ?Growth hormone deficiency, isolated, type V, 618160; congenital cataracts
gene: RNPC3 was added gene: RNPC3 was added to Cataracts. Sources: Expert Review,Literature Mode of inheritance for gene: RNPC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNPC3 were set to 24480542; 29866761; 32462814 Phenotypes for gene: RNPC3 were set to isolated growth hormone deficiency; ?Growth hormone deficiency, isolated, type V, 618160; congenital cataracts Review for gene: RNPC3 was set to RED