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Growth failure v1.16 RNPC3 Zornitza Stark Phenotypes for gene: RNPC3 were changed from Growth hormone deficiency to Growth hormone deficiency; Intellectual disability
Growth failure v1.15 RNPC3 Zornitza Stark Publications for gene: RNPC3 were set to 32462814; 29866761; 24480542
Growth failure v1.14 RNPC3 Zornitza Stark Classified gene: RNPC3 as Green List (high evidence)
Growth failure v1.14 RNPC3 Zornitza Stark Gene: rnpc3 has been classified as Green List (High Evidence).
Growth failure v1.13 RNPC3 Zornitza Stark edited their review of gene: RNPC3: Added comment: PMID 33650182: third individual reported with growth failure and ID.; Changed rating: GREEN; Changed publications: 29866761, 32462814, 33650182; Changed phenotypes: Growth hormone deficiency, Intellectual disability
Growth failure v0.153 RNPC3 Zornitza Stark Marked gene: RNPC3 as ready
Growth failure v0.153 RNPC3 Zornitza Stark Gene: rnpc3 has been classified as Amber List (Moderate Evidence).
Growth failure v0.153 RNPC3 Zornitza Stark Phenotypes for gene: RNPC3 were changed from ?Growth hormone deficiency, isolated, type V, 618160; isolated growth hormone deficiency to Growth hormone deficiency
Growth failure v0.152 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 v0.0 RNPC3 Zornitza Stark gene: RNPC3 was added
gene: RNPC3 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: RNPC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNPC3 were set to 32462814; 29866761; 24480542
Phenotypes for gene: RNPC3 were set to ?Growth hormone deficiency, isolated, type V, 618160; isolated growth hormone deficiency