Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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20 actions
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| Additional findings health related - children v1.0 | Eleanor Williams promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related - children v0.13 | Eleanor Williams Panel name changed from Additional findings health related child to Additional findings health related - children | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related - children v0.12 | Eleanor Williams Panel types changed to Component Of Super Panel; Additional Findings | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related - children v0.11 | Eleanor Williams Panel types changed to Component Of Super Panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related - children v0.9 | Eleanor Williams Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related - children v0.8 | VHL | Eleanor Williams Transcript for gene VHL was changed from None to ENST00000256474.2; NM_000551.3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related - children v0.7 | RET | Eleanor Williams Transcript for gene RET was changed from None to ENST00000355710.8; NM_020975.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related - children v0.6 | PCSK9 | Eleanor Williams Transcript for gene PCSK9 was changed from None to ENST00000302118.5; NM_174936.3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related - children v0.5 | MEN1 | Eleanor Williams Transcript for gene MEN1 was changed from None to ENST00000312049.10; NM_130799.2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related - children v0.4 | LDLR | Eleanor Williams Transcript for gene LDLR was changed from None to ENST00000558518.5; NM_000527.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related - children v0.3 | APOB | Eleanor Williams Transcript for gene APOB was changed from None to ENST00000233242.5; NM_000384.2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related - children v0.2 | APC | Eleanor Williams Transcript for gene APC was changed from None to ENST00000257430.9; NM_000038.5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related - children v0.1 | VHL |
Eleanor Williams gene: VHL was added gene: VHL was added to Additional findings health related child. Sources: Expert Review Green,Other Mode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: VHL were set to Other cancer predisposition; Von Hippel Lindau Syndrome; Adult and child |
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| Additional findings health related - children v0.1 | RET |
Eleanor Williams gene: RET was added gene: RET was added to Additional findings health related child. Sources: Expert Review Green,Other Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RET were set to Other cancer predisposition; Myltiple endocrine Neoplasia Type 2; Adult and child Mode of pathogenicity for gene: RET was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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| Additional findings health related - children v0.1 | PCSK9 |
Eleanor Williams gene: PCSK9 was added gene: PCSK9 was added to Additional findings health related child. Sources: Expert Review Green,Other Mode of inheritance for gene: PCSK9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PCSK9 were set to Adult and child; Familial hypercholesterolaemia Mode of pathogenicity for gene: PCSK9 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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| Additional findings health related - children v0.1 | MEN1 |
Eleanor Williams gene: MEN1 was added gene: MEN1 was added to Additional findings health related child. Sources: Expert list,Expert Review Green Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MEN1 were set to Other cancer predisposition; Adult and child; Myltiple endocrine Neoplasia Type 1 |
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| Additional findings health related - children v0.1 | LDLR |
Eleanor Williams gene: LDLR was added gene: LDLR was added to Additional findings health related child. Sources: Expert list,Expert Review Green Mode of inheritance for gene: LDLR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LDLR were set to Adult and child; Familial hypercholesterolaemia |
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| Additional findings health related - children v0.1 | APOB |
Eleanor Williams gene: APOB was added gene: APOB was added to Additional findings health related child. Sources: Expert Review Green,Other Mode of inheritance for gene: APOB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: APOB were set to Adult and child; Familial hypercholesterolaemia Mode of pathogenicity for gene: APOB was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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| Additional findings health related - children v0.1 | APC |
Eleanor Williams gene: APC was added gene: APC was added to Additional findings health related child. Sources: Expert list,Expert Review Green Mode of inheritance for gene: APC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: APC were set to Familial Adenomatous Polyposis; Adult and child; Bowel cancer predisposition |
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| Additional findings health related - children v0.0 | Eleanor Williams Added Panel Additional findings health related child | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||