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| Pituitary hormone deficiency v2.106 | RNPC3 | Eleanor Williams Tag gene-checked tag was added to gene: RNPC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.106 | RNPC3 |
Catherine Snow Tag Q3_22_rating was removed from gene: RNPC3. Tag Q3_22_NHS_review was removed from gene: RNPC3. |
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| Pituitary hormone deficiency v2.106 | RNPC3 | Catherine Snow commented on gene: RNPC3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.105 | RNPC3 |
Catherine Snow 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) |
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| Pituitary hormone deficiency v2.76 | RNPC3 | Sarah Leigh Classified gene: RNPC3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.76 | RNPC3 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.76 | RNPC3 | Sarah Leigh Gene: rnpc3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.75 | RNPC3 | Sarah Leigh reviewed gene: RNPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.75 | RNPC3 | Sarah Leigh 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.74 | RNPC3 |
Sarah Leigh 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. |
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| Pituitary hormone deficiency v2.74 | RNPC3 | Sarah Leigh Publications for gene: RNPC3 were set to 24480542; 29866761; 32462814; 33650182 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.15 | RNPC3 | Eleanor Williams reviewed gene: RNPC3: Rating: ; Mode of pathogenicity: ; Publications: 34906446; Phenotypes: GHT, TSH AND PROLACTIN DEFICIENCY, PRIMARY OVARIAN FAILURE, NEUROPATHY, INTELLECTUAL DISABILITY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.10 | RNPC3 | Ivone Leong Classified gene: RNPC3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.10 | RNPC3 | Ivone Leong Gene: rnpc3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.9 | RNPC3 | Ivone Leong Tag watchlist tag was added to gene: RNPC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.9 | RNPC3 | Ivone Leong edited their review of gene: RNPC3: Added comment: 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.; Changed rating: AMBER; Changed publications to: 33650182 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.9 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.8 | RNPC3 | Ivone Leong Publications for gene: RNPC3 were set to 24480542; 29866761; 32462814 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.5 | RNPC3 |
Ivone Leong 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 Added comment: 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 Review |
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