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| Paediatric or syndromic cardiomyopathy v0.16 | PTPN11 | Ivone Leong reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.15 | PTPN11 | Ivone Leong Source NHS GMS was added to PTPN11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.4 | PTPN11 |
Ivone Leong Source Expert List was added to PTPN11. Mode of pathogenicity for gene PTPN11 was changed from to Other - please provide details in the comments Added phenotypes LEOPARD syndrome 1 151100; Noonan syndrome 1 163950 for gene: PTPN11 Publications for gene PTPN11 were changed from 18678287; 16263833; PMID: 17603483; 15384080; 11704759; 17497712; 15240615; 12529711; 12634870 to 17603483; 15384080; 15240615; 16263833; 18678287; 12529711; 17497712; 12634870; 11704759 |
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| Paediatric or syndromic cardiomyopathy v0.1 | PTPN11 |
Ivone Leong gene: PTPN11 was added gene: PTPN11 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,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 18678287; 16263833; PMID: 17603483; 15384080; 11704759; 17497712; 15240615; 12529711; 12634870 Phenotypes for gene: PTPN11 were set to LEOPARD syndrome 1; Noonan syndrome; syndromic HCM; Noonan syndrome 1; LEOPARD syndrome |
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