Pituitary hormone deficiency
Gene: RNPC3The rating of this gene has been updated to GREEN following NHS Genomic Medicine Service approval.Created: 31 Jan 2023, 3:01 p.m. | Last Modified: 31 Jan 2023, 3:01 p.m.
Panel Version: 2.106
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 20 Sep 2022, 3:03 p.m. | Last Modified: 20 Sep 2022, 3:03 p.m.
Panel Version: 2.76
Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. At least 10 RNPC3 variants have been reported.
.Created: 20 Sep 2022, 3:02 p.m. | Last Modified: 20 Sep 2022, 3:02 p.m.
Panel Version: 2.75
Review on behalf of Professor Mehul Dattani, UCL GOS Institute of Child Health/Great Ormond Street Hospital for Children. Akin L, Rizzoti K, Gregory LC, Corredor B, Le Quesne Stabej P, Williams H, Buonocore F, Mouilleron S, Capra V, McGlacken-Byrne SM, Martos-Moreno G, Azmanov DN, Kendirci M, Kurtoglu S, Suntharalingham JP, Galichet C, Gustincich S, Tasic V, Achermann JC, Accogli A, Filipovska A, Tuilpakov A, Maghnie M, Gucev Z, Gonen ZB, Prez-Jurado LA, Robinson I, Lovell-Badge R, Argente J, Dattani MT.Genet Med. 2022 Feb;24(2):384-397. doi: 10.1016/j.gim.2021.09.019. Epub 2021 Nov 30.PMID:34906446Created: 14 Sep 2022, 4:44 p.m. | Last Modified: 14 Sep 2022, 4:44 p.m.
Panel Version: 2.15
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GHT, TSH AND PROLACTIN DEFICIENCY, PRIMARY OVARIAN FAILURE, NEUROPATHY, INTELLECTUAL DISABILITY
Publications
PMID:33650182 a third case reported with growth failure, second case with ID and growth failure. In this case the patient has GH and PRL deficiencies, as well as undetectably low IGF1 levels. This is the second case where there are >2 pituitary hormone deficiency. Thefore this gene should be promoted from Red to Amber.Created: 3 Dec 2021, 11:44 a.m. | Last Modified: 3 Dec 2021, 11:44 a.m.
Panel Version: 2.9
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 the second case has low levels of prolactin and GH, this gene was added to this panel as a Red gene.
Sources: Literature, Expert ReviewCreated: 30 Nov 2020, 10:02 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
isolated growth hormone deficiency; ?Growth hormone deficiency, isolated, type V, 618160
Publications
Tag gene-checked tag was added to gene: RNPC3.
Tag Q3_22_rating was removed from gene: RNPC3. Tag Q3_22_NHS_review was removed from gene: RNPC3.
Source Expert Review Green was added to RNPC3. Source NHS GMS was added to RNPC3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: rnpc3 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: RNPC3 were changed from Pituitary hormone deficiency, combined or isolated, 7, OMIM:618160 to Pituitary hormone deficiency, combined or isolated 7, OMIM:618160; isolated growth hormone deficiency, type 5, MONDO:0032569
Tag watchlist was removed from gene: RNPC3. Tag Q3_22_rating tag was added to gene: RNPC3. Tag Q3_22_NHS_review tag was added to gene: RNPC3.
Publications for gene: RNPC3 were set to 24480542; 29866761; 32462814; 33650182
Gene: rnpc3 has been classified as Amber List (Moderate Evidence).
Tag watchlist tag was added to gene: RNPC3.
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
Publications for gene: RNPC3 were set to 24480542; 29866761; 32462814
gene: RNPC3 was added gene: RNPC3 was added to Pituitary hormone deficiency. Sources: Literature,Expert Review 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 Review for gene: RNPC3 was set to RED