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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
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
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
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
Additional findings health related - CNV analysis children v0.0 Eleanor Williams Added Panel Additional findings health related child CNVs