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| Cardiomyopathy_Paediatric v1.293 | PTPN11 | Zornitza Stark Marked gene: PTPN11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.293 | PTPN11 | Zornitza Stark Gene: ptpn11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.293 | PTPN11 | Zornitza Stark Phenotypes for gene: PTPN11 were changed from LEOPARD syndrome 1; Noonan syndrome 1 163950; LEOPARD syndrome 1 151100; syndromic HCM; Noonan syndrome 1; LEOPARD syndrome; Noonan syndrome to Noonan syndrome 1, MIM# 163950 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.292 | PTPN11 | Zornitza Stark Mode of pathogenicity for gene: PTPN11 was changed from Other - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.291 | PTPN11 | Zornitza Stark reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: Noonan syndrome 1, MIM# 163950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.0 | PTPN11 | Gene migrated from ENSG00000179295 to ENSG00000179295 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.0 | PTPN11 |
Zornitza Stark gene: PTPN11 was added gene: PTPN11 was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTPN11 were set to 16263833; 12634870; 18678287; 15384080; 15240615; 11704759; 17603483; 17497712; 12529711 Phenotypes for gene: PTPN11 were set to LEOPARD syndrome 1; Noonan syndrome 1 163950; LEOPARD syndrome 1 151100; syndromic HCM; Noonan syndrome 1; LEOPARD syndrome; Noonan syndrome Mode of pathogenicity for gene: PTPN11 was set to Other - please provide details in the comments |
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