Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Pigmentary skin disorders v0.27 | PTPN11 |
Catherine Snow Added phenotypes LEOPARD SYNDROME 1; NS1; LPRD1, NOONAN SYNDROME 1 for gene: PTPN11 Publications for gene PTPN11 were changed from to 11704759; 15389709 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | PTPN11 | Tom Cullup reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: 11704759, 15389709; Phenotypes: LEOPARD SYNDROME 1, LPRD1, NOONAN SYNDROME 1, NS1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | PTPN11 | Rebecca Foulger Source London North GLH was added to PTPN11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | PTPN11 | Rebecca Foulger reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.3 | PTPN11 |
Rebecca Foulger gene: PTPN11 was added gene: PTPN11 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PTPN11 were set to Noonan syndrome; Noonan syndrome with lentigines (LEOPARD) |