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| Growth failure in early childhood v2.35 | RNPC3 | Eleanor Williams Tag gene-checked tag was added to gene: RNPC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v2.33 | RNPC3 | Catherine Snow Tag Q4_21_rating was removed from gene: RNPC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v2.33 | RNPC3 | Catherine Snow commented on gene: RNPC3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v2.32 | 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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| Growth failure in early childhood v1.96 | RNPC3 | Ivone Leong changed review comment from: Comment on publications: PMID:33650182 a third case reported with growth failure and ID.; to: Comment on publications: PMID:33650182 a third case reported with growth failure and second case with ID | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.96 | RNPC3 | Ivone Leong Tag Q4_21_rating tag was added to gene: RNPC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.96 | RNPC3 | Ivone Leong edited their review of gene: RNPC3: Added comment: There is now enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.96 | RNPC3 | Ivone Leong Phenotypes for gene: RNPC3 were changed from Pituitary hormone deficiency, combined or isolated, 7, 618160 to Pituitary hormone deficiency, combined or isolated, 7, OMIM:618160 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.95 | 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, 618160 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.94 | RNPC3 | Ivone Leong Added comment: Comment on publications: PMID:33650182 a third case reported with growth failure and ID. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.94 | RNPC3 | Ivone Leong Publications for gene: RNPC3 were set to 24480542; 29866761; 32462814 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.13 | RNPC3 | Ivone Leong Classified gene: RNPC3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.13 | RNPC3 |
Ivone Leong Added comment: 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. |
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| Growth failure in early childhood v1.13 | RNPC3 | Ivone Leong Gene: rnpc3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.12 | RNPC3 | Ivone Leong Publications for gene: RNPC3 were set to 24480542 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.11 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.10 | RNPC3 | Zornitza Stark reviewed gene: RNPC3: Rating: AMBER; Mode of pathogenicity: None; Publications: 29866761, 32462814; Phenotypes: Growth hormone deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v0.1 | RNPC3 |
Ellen McDonagh gene: RNPC3 was added gene: RNPC3 was added to Growth failure in early childhood. Sources: Expert Review Red Mode of inheritance for gene: RNPC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNPC3 were set to 24480542 Phenotypes for gene: RNPC3 were set to isolated growth hormone deficiency |
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