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Cataracts

Gene: RNPC3

Red List (low evidence)

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

1 review

Ivone Leong (Genomics England Curator)

Red List (low evidence)

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

Phenotypes
isolated growth hormone deficiency; ?Growth hormone deficiency, isolated, type V, 618160; congenital cataracts

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review
Phenotypes
  • isolated growth hormone deficiency
  • ?Growth hormone deficiency, isolated, type V, 618160
  • congenital cataracts
Clinvar variants
Variants in RNPC3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Nov 2020, Gel status: 1

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

Ivone Leong (Genomics England Curator)

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