| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Additional findings health related - CNV analysis children v1.0 | Eleanor Williams promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related - CNV analysis children v0.11 | Eleanor Williams Panel name changed from Additional findings health related child CNVs to Additional findings health related - CNV analysis children | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related - CNV analysis children v0.10 | Eleanor Williams Panel types changed to Component Of Super Panel; Additional Findings | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related - CNV analysis children v0.9 | Eleanor Williams Panel types changed to Component Of Super Panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related - CNV analysis children v0.7 | Eleanor Williams Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related - CNV analysis children v0.6 | VHL | Eleanor Williams Transcript for gene VHL was changed from None to ENST00000256474.2; NM_000551.3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related - CNV analysis children v0.5 | MEN1 | Eleanor Williams Transcript for gene MEN1 was changed from None to ENST00000312049.10; NM_130799.2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related - CNV analysis children v0.4 | LDLR | Eleanor Williams Transcript for gene LDLR was changed from None to ENST00000558518.5; NM_000527.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related - CNV analysis children v0.3 | APC | Eleanor Williams Transcript for gene APC was changed from None to ENST00000257430.9; NM_000038.5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related - CNV analysis children v0.1 | VHL |
Eleanor Williams gene: VHL was added gene: VHL was added to Additional findings health related child CNVs. 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 Von Hippel Lindau Syndrome; Other cancer predisposition; Adult and child |
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| Additional findings health related - CNV analysis children v0.1 | MEN1 |
Eleanor Williams gene: MEN1 was added gene: MEN1 was added to Additional findings health related child CNVs. Sources: Expert Review Green,Expert list Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MEN1 were set to Myltiple endocrine Neoplasia Type 1; Other cancer predisposition; Adult and child |
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| Additional findings health related - CNV analysis children v0.1 | LDLR |
Eleanor Williams gene: LDLR was added gene: LDLR was added to Additional findings health related child CNVs. Sources: Expert Review Green,Expert list Mode of inheritance for gene: LDLR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LDLR were set to Familial hypercholesterolaemia; Adult and child |
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| Additional findings health related - CNV analysis children v0.1 | APC |
Eleanor Williams gene: APC was added gene: APC was added to Additional findings health related child CNVs. Sources: Expert Review Green,Expert list 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 - CNV analysis children v0.0 | Eleanor Williams Added Panel Additional findings health related child CNVs | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||