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| IUGR and IGF abnormalities v1.49 | RNPC3 | Ivone Leong Classified gene: RNPC3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.49 | RNPC3 | Ivone Leong Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.49 | RNPC3 | Ivone Leong Gene: rnpc3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.48 | RNPC3 | Ivone Leong Publications for gene: RNPC3 were set to 24480542; 29866761; 32462814 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.47 | RNPC3 | Ivone Leong 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.33 | RNPC3 | Ivone Leong Classified gene: RNPC3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.33 | RNPC3 |
Ivone Leong Added comment: 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" |
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| IUGR and IGF abnormalities v1.33 | RNPC3 | Ivone Leong Gene: rnpc3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.32 | RNPC3 | Ivone Leong Phenotypes for gene: RNPC3 were changed from isolated growth hormone deficiency to isolated growth hormone deficiency; ?Growth hormone deficiency, isolated, type V, 618160 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.31 | RNPC3 | Ivone Leong Publications for gene: RNPC3 were set to 24480542 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||