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| Imprinting disorders v0.13 | NLRP2 | Zornitza Stark Marked gene: NLRP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Imprinting disorders v0.13 | NLRP2 | Zornitza Stark Gene: nlrp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Imprinting disorders v0.13 | NLRP2 | Zornitza Stark Phenotypes for gene: NLRP2 were changed from Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 MONDO:0016475 to Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 MONDO:0016475; Early embryonic arrest; Multi locus imprinting disturbance in offspring | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Imprinting disorders v0.12 | NLRP2 | Zornitza Stark reviewed gene: NLRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Imprinting disorders v0.10 | NLRP2 | Anna Le Fevre reviewed gene: NLRP2: Rating: ; Mode of pathogenicity: None; Publications: PMID: 30877238, 28317850, 29574422; Phenotypes: Early embryonic arrest, Multi locus imprinting disturbance in offspring; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Imprinting disorders v0.0 | NLRP2 |
Zornitza Stark gene: NLRP2 was added gene: NLRP2 was added to Imprinting disorders. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: NLRP2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: NLRP2 were set to 26323243; 29574422; 32169557; 28317850; 30221575; 30877238; 33090377; 19300480; 28422141 Phenotypes for gene: NLRP2 were set to Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 MONDO:0016475 Mode of pathogenicity for gene: NLRP2 was set to Other |
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