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| Growth failure v1.81 | ZPR1 | Zornitza Stark Phenotypes for gene: ZPR1 were changed from Growth restriction, hypoplastic kidneys, alpecia, and distinctive facies, MIM# 619321 to Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, MIM# 619321 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v1.80 | ZPR1 | Zornitza Stark Classified gene: ZPR1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v1.80 | ZPR1 | Zornitza Stark Gene: zpr1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v1.79 | ZPR1 | Zornitza Stark edited their review of gene: ZPR1: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v1.79 | ZPR1 |
Zornitza Stark changed review comment from: PMID 40776660: new family reported with two sibs, same homozygous founder variant.; to: PMID 40776660: new family reported with two sibs, same homozygous founder variant. This paper also summarizes functional studies from the previous paper PMID: 29851065 - cultured skin fibroblasts from the patient homozygous for c.587 T>C showed significantly fewer cells in late S and G2/M phases of the cell cycle compared to control fibroblasts suggesting a disruption of cell-cycle progression past the G1 phase. ZPR1 protein was undetectable in fibroblasts from the affected individual. |
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| Growth failure v1.79 | ZPR1 | Zornitza Stark Publications for gene: ZPR1 were set to 29851065 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v1.78 | ZPR1 | Zornitza Stark edited their review of gene: ZPR1: Added comment: PMID 40776660: new family reported with two sibs, same homozygous founder variant.; Changed publications: 29851065, 40776660 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.64 | ZPR1 | Zornitza Stark Marked gene: ZPR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.64 | ZPR1 | Zornitza Stark Gene: zpr1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.64 | ZPR1 | Zornitza Stark Phenotypes for gene: ZPR1 were changed from ?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321 to Growth restriction, hypoplastic kidneys, alpecia, and distinctive facies, MIM# 619321 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.63 | ZPR1 | Zornitza Stark Tag founder tag was added to gene: ZPR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.63 | ZPR1 | Zornitza Stark reviewed gene: ZPR1: Rating: RED; Mode of pathogenicity: None; Publications: 29851065; Phenotypes: Growth restriction, hypoplastic kidneys, alpecia, and distinctive facies, MIM# 619321; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.0 | ZPR1 |
Zornitza Stark gene: ZPR1 was added gene: ZPR1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: ZPR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZPR1 were set to 29851065 Phenotypes for gene: ZPR1 were set to ?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321 |
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