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Additional findings health related v0.114 BRCA2 Arina Puzriakova Phenotypes for gene: BRCA2 were changed from Breast and ovarian cancer predisposition; Adult only to {Breast-ovarian cancer, familial, 2}, OMIM:612555; {Breast cancer, male, susceptibility to}, OMIM:114480; Adult only
Additional findings health related v0.113 BRCA1 Arina Puzriakova Phenotypes for gene: BRCA1 were changed from Breast and ovarian cancer predisposition; Adult only to {Breast-ovarian cancer, familial, 1}, OMIM:604370; Breast and ovarian cancer predisposition; Adult only
Additional findings health related v0.112 CFTR Arina Puzriakova Mode of inheritance for gene: CFTR was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings health related v0.111 CFTR Arina Puzriakova Mode of inheritance for gene: CFTR was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Additional findings health related v0.110 CFTR Arina Puzriakova Tag curated_removed tag was added to gene: CFTR.
Additional findings health related v0.110 Eleanor Williams Panel types changed to Additional Findings
Additional findings health related v0.109 BRCA1 Eleanor Williams Phenotypes for gene: BRCA1 were changed from ENST00000357654.8; Breast and ovarian cancer predisposition; Adult only to Breast and ovarian cancer predisposition; Adult only
Additional findings health related v0.108 MEN1 Sarah Leigh changed review comment from: Comment on phenotypes: Clinically relevant transcript NM_000244.3; to: Comment on phenotypes: Clinically relevant transcript NM_000244.3. This has been supersceded by NM_130799.2
Additional findings health related v0.108 VHL Catherine Snow Transcript for gene VHL was changed from ENST00000256474.2 to ENST00000256474.2; NM_000551.3
Additional findings health related v0.107 RET Catherine Snow Transcript for gene RET was changed from ENST00000355710.8 to ENST00000355710.8; NM_020975.4
Additional findings health related v0.106 PCSK9 Catherine Snow Transcript for gene PCSK9 was changed from ENST00000302118.5 to ENST00000302118.5; NM_174936.3
Additional findings health related v0.105 MUTYH Catherine Snow Transcript for gene MUTYH was changed from ENST00000450313.5 to ENST00000450313.5; NM_001128425.1
Additional findings health related v0.104 MSH6 Catherine Snow Transcript for gene MSH6 was changed from ENST00000234420.9 to ENST00000234420.9; NM_000179.2
Additional findings health related v0.103 MSH2 Catherine Snow Transcript for gene MSH2 was changed from ENST00000233146.6 to ENST00000233146.6; NM_000251.2
Additional findings health related v0.102 MLH1 Catherine Snow Transcript for gene MLH1 was changed from ENST00000231790.6 to ENST00000231790.6; NM_000249.3
Additional findings health related v0.101 MEN1 Catherine Snow Transcript for gene MEN1 was changed from None to NM_130799.2; ENST00000312049.10
Additional findings health related v0.99 LDLR Catherine Snow Transcript for gene LDLR was changed from ENST00000558518.5 to ENST00000558518.5; NM_000527.4
Additional findings health related v0.98 CFTR Catherine Snow Transcript for gene CFTR was changed from NM_000492.3 to ENST00000003084.10; NM_000492.3
Additional findings health related v0.97 BRCA2 Catherine Snow Transcript for gene BRCA2 was changed from ENST00000544455.5 to ENST00000544455.5; NM_000059.3
Additional findings health related v0.96 BRCA1 Catherine Snow Transcript for gene BRCA1 was changed from ENST00000357654.8 to ENST00000357654.8; NM_007294.3
Additional findings health related v0.95 APOB Catherine Snow Transcript for gene APOB was changed from ENST00000233242.5 to ENST00000233242.5; NM_000384.2
Additional findings health related v0.94 APC Catherine Snow Transcript for gene APC was changed from ENST00000257430.9 to ENST00000257430.9; NM_000038.5
Additional findings health related v0.93 CFTR Catherine Snow Source Carrier Status was removed from CFTR.
Source Expert Review was added to CFTR.
Transcript for gene CFTR was changed from None to NM_000492.3
Additional findings health related v0.92 APOB Ellen McDonagh Mode of pathogenicity for gene: APOB was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Additional findings health related v0.90 RET Ellen McDonagh Transcript for gene RET was changed from ENST00000355710.7 to ENST00000355710.8
Additional findings health related v0.89 MSH6 Ellen McDonagh Source Additional Findings was removed from MSH6.
Source ACMG was removed from MSH6.
Source Other was added to MSH6.
Phenotypes for gene: MSH6 were changed from ENST00000234420.9; Bowel cancer predisposition; Hereditary non-polyposis colorectal cancer; Adult only to Bowel cancer predisposition; Hereditary non-polyposis colorectal cancer; Adult only
Transcript for gene MSH6 was changed from None to ENST00000234420.9
Additional findings health related v0.88 MUTYH Ellen McDonagh Source Additional Findings was removed from MUTYH.
Source ACMG was removed from MUTYH.
Source Other was added to MUTYH.
Phenotypes for gene: MUTYH were changed from ENST00000450313.5; Bowel cancer predisposition; MYH-associated polyposis; Adult only to Bowel cancer predisposition; MYH-associated polyposis; Adult only
Transcript for gene MUTYH was changed from None to ENST00000450313.5
Additional findings health related v0.87 PCSK9 Ellen McDonagh Source Additional Findings was removed from PCSK9.
Source ACMG was removed from PCSK9.
Source Other was added to PCSK9.
Phenotypes for gene: PCSK9 were changed from ENST00000302118.5; Familial hypercholesterolaemia; Adult and child to Familial hypercholesterolaemia; Adult and child
Transcript for gene PCSK9 was changed from None to ENST00000302118.5
Additional findings health related v0.86 RET Ellen McDonagh Phenotypes for gene: RET were changed from ENST00000355710.7; Other cancer predisposition; Myltiple endocrine Neoplasia Type 2; Adult and child to Other cancer predisposition; Myltiple endocrine Neoplasia Type 2; Adult and child
Transcript for gene RET was changed from None to ENST00000355710.7
Additional findings health related v0.85 VHL Ellen McDonagh Source Additional Findings was removed from VHL.
Source ACMG was removed from VHL.
Source Other was added to VHL.
Phenotypes for gene: VHL were changed from ENST00000256474.2; Other cancer predisposition; Von Hippel Lindau Syndrome; Adult and child to Other cancer predisposition; Von Hippel Lindau Syndrome; Adult and child
Transcript for gene VHL was changed from None to ENST00000256474.2
Additional findings health related v0.84 MSH2 Ellen McDonagh Source Additional Findings was removed from MSH2.
Source ACMG was removed from MSH2.
Source Expert list was added to MSH2.
Phenotypes for gene: MSH2 were changed from ENST00000233146.6; Bowel cancer predisposition; Hereditary non-polyposis colorectal cancer; Adult only to Bowel cancer predisposition; Hereditary non-polyposis colorectal cancer; Adult only
Transcript for gene MSH2 was changed from None to ENST00000233146.6
Additional findings health related v0.83 MLH1 Ellen McDonagh Source Additional Findings was removed from MLH1.
Source ACMG was removed from MLH1.
Source Expert list was added to MLH1.
Phenotypes for gene: MLH1 were changed from ENST00000231790.6; Bowel cancer predisposition; Hereditary non-polyposis colorectal cancer; Adult only to Bowel cancer predisposition; Hereditary non-polyposis colorectal cancer; Adult only
Transcript for gene MLH1 was changed from None to ENST00000231790.6
Additional findings health related v0.82 MEN1 Ellen McDonagh Source Additional Findings was removed from MEN1.
Source ACMG was removed from MEN1.
Source Expert list was added to MEN1.
Phenotypes for gene: MEN1 were changed from ENST00000394374.6; Other cancer predisposition; Myltiple endocrine Neoplasia Type 1; Adult and child to Other cancer predisposition; Myltiple endocrine Neoplasia Type 1; Adult and child
Transcript for gene MEN1 was changed from None to ENST00000394374.6
Additional findings health related v0.81 LDLR Ellen McDonagh Source Additional Findings was removed from LDLR.
Source ACMG was removed from LDLR.
Source Expert list was added to LDLR.
Phenotypes for gene: LDLR were changed from ENST00000558518.5; Familial hypercholesterolaemia; Adult and child to Familial hypercholesterolaemia; Adult and child
Transcript for gene LDLR was changed from None to ENST00000558518.5
Additional findings health related v0.80 BRCA2 Ellen McDonagh Source Additional Findings was removed from BRCA2.
Source ACMG was removed from BRCA2.
Source Expert list was added to BRCA2.
Phenotypes for gene: BRCA2 were changed from ENST00000544455.5; Breast and ovarian cancer predisposition; Adult only to Breast and ovarian cancer predisposition; Adult only
Transcript for gene BRCA2 was changed from None to ENST00000544455.5
Additional findings health related v0.79 BRCA1 Ellen McDonagh Source Additional Findings was removed from BRCA1.
Source ACMG was removed from BRCA1.
Source Expert list was added to BRCA1.
Transcript for gene BRCA1 was changed from None to ENST00000357654.8
Additional findings health related v0.78 APOB Ellen McDonagh Phenotypes for gene: APOB were changed from ENST00000233242.5; Familial hypercholesterolaemia; Adult and child to Familial hypercholesterolaemia; Adult and child
Transcript for gene APOB was changed from None to ENST00000233242.5
Additional findings health related v0.77 APC Ellen McDonagh Source Additional Findings was removed from APC.
Source ACMG was removed from APC.
Source Expert list was added to APC.
Phenotypes for gene: APC were changed from ENST00000257430.8; Bowel cancer predisposition; Familial Adenomatous Polyposis; Adult and child to Bowel cancer predisposition; Familial Adenomatous Polyposis; Adult and child
Transcript for gene APC was changed from None to ENST00000257430.9
Additional findings health related v0.76 CFTR Ellen McDonagh Classified gene: CFTR as No list
Additional findings health related v0.76 CFTR Ellen McDonagh Added comment: Comment on list classification: A seperate panel will be used for analysis of this gene.
Additional findings health related v0.76 CFTR Ellen McDonagh Gene: cftr has been removed from the panel.
Additional findings health related v0.75 Ellen McDonagh Panel name changed from Genomics England Additional Findings to Additional findings health related
Additional findings health related v0.74 CFTR Ellen McDonagh Phenotypes for gene: CFTR were changed from NST00000003084.10; Carrier status; Cystic Fibrosis; Adult-only to ENST00000003084.10; Carrier status; Cystic Fibrosis; Adult-only
Additional findings health related v0.73 CFTR Ellen McDonagh Phenotypes for gene: CFTR were changed from NM_000492.3; Carrier status; Cystic Fibrosis; Adult-only to NST00000003084.10; Carrier status; Cystic Fibrosis; Adult-only
Additional findings health related v0.72 CFTR Ellen McDonagh Deleted their review
Additional findings health related v0.72 CFTR Ellen McDonagh Deleted their comment
Additional findings health related v0.72 CFTR Ellen McDonagh Classified gene: CFTR as Green List (high evidence)
Additional findings health related v0.72 CFTR Ellen McDonagh Gene: cftr has been classified as Green List (High Evidence).
Additional findings health related v0.71 VHL Ellen McDonagh Phenotypes for gene: VHL were changed from NM_000551.3; Other cancer predisposition; Von Hippel Lindau Syndrome; Adult and child to ENST00000256474.2; Other cancer predisposition; Von Hippel Lindau Syndrome; Adult and child
Additional findings health related v0.70 RET Ellen McDonagh Phenotypes for gene: RET were changed from NM_020975.4; Other cancer predisposition; Myltiple endocrine Neoplasia Type 2; Adult and child to ENST00000355710.7; Other cancer predisposition; Myltiple endocrine Neoplasia Type 2; Adult and child
Additional findings health related v0.69 PCSK9 Ellen McDonagh Phenotypes for gene: PCSK9 were changed from NM_174936.3; Familial hypercholesterolaemia; Adult and child to ENST00000302118.5; Familial hypercholesterolaemia; Adult and child
Additional findings health related v0.68 MUTYH Ellen McDonagh Phenotypes for gene: MUTYH were changed from NM_001128425.1; Bowel cancer predisposition; MYH-associated polyposis; Adult only to ENST00000450313.5; Bowel cancer predisposition; MYH-associated polyposis; Adult only
Additional findings health related v0.67 MSH6 Ellen McDonagh Phenotypes for gene: MSH6 were changed from NM_000179.2; Bowel cancer predisposition; Hereditary non-polyposis colorectal cancer; Adult only to ENST00000234420.9; Bowel cancer predisposition; Hereditary non-polyposis colorectal cancer; Adult only
Additional findings health related v0.66 MSH2 Ellen McDonagh Phenotypes for gene: MSH2 were changed from NM_000251.2; Bowel cancer predisposition; Hereditary non-polyposis colorectal cancer; Adult only to ENST00000233146.6; Bowel cancer predisposition; Hereditary non-polyposis colorectal cancer; Adult only
Additional findings health related v0.65 MLH1 Ellen McDonagh Phenotypes for gene: MLH1 were changed from NM_000249.3; Bowel cancer predisposition; Hereditary non-polyposis colorectal cancer; Adult only to ENST00000231790.6; Bowel cancer predisposition; Hereditary non-polyposis colorectal cancer; Adult only
Additional findings health related v0.64 MEN1 Ellen McDonagh Phenotypes for gene: MEN1 were changed from NM_000244.3; Other cancer predisposition; Myltiple endocrine Neoplasia Type 1; Adult and child to ENST00000394374.6; Other cancer predisposition; Myltiple endocrine Neoplasia Type 1; Adult and child
Additional findings health related v0.63 LDLR Ellen McDonagh Phenotypes for gene: LDLR were changed from NM_000527.4; Familial hypercholesterolaemia; Adult and child to ENST00000558518.5; Familial hypercholesterolaemia; Adult and child
Additional findings health related v0.62 CFTR Ellen McDonagh Classified gene: CFTR as No list
Additional findings health related v0.62 CFTR Ellen McDonagh Gene: cftr has been removed from the panel.
Additional findings health related v0.61 BRCA2 Ellen McDonagh Phenotypes for gene: BRCA2 were changed from NM_000059.3; Breast and ovarian cancer predisposition; Adult only to ENST00000544455.5; Breast and ovarian cancer predisposition; Adult only
Additional findings health related v0.60 BRCA1 Ellen McDonagh Phenotypes for gene: BRCA1 were changed from NM_007294.3; Breast and ovarian cancer predisposition; Adult only to ENST00000357654.8; Breast and ovarian cancer predisposition; Adult only
Additional findings health related v0.59 APC Ellen McDonagh Phenotypes for gene: APC were changed from ENST00000257430; Bowel cancer predisposition; Familial Adenomatous Polyposis; Adult and child to ENST00000257430.8; Bowel cancer predisposition; Familial Adenomatous Polyposis; Adult and child
Additional findings health related v0.58 APOB Ellen McDonagh Phenotypes for gene: APOB were changed from NM_000384.2; Familial hypercholesterolaemia; Adult and child to ENST00000233242.5; Familial hypercholesterolaemia; Adult and child
Additional findings health related v0.57 APC Ellen McDonagh Phenotypes for gene: APC were changed from NM_000038.5; ENST00000257430.8; Bowel cancer predisposition; Familial Adenomatous Polyposis; Adult and child to ENST00000257430; Bowel cancer predisposition; Familial Adenomatous Polyposis; Adult and child
Additional findings health related v0.56 APC Ellen McDonagh Phenotypes for gene: APC were changed from NM_000038.5; Bowel cancer predisposition; Familial Adenomatous Polyposis; Adult and child to NM_000038.5; ENST00000257430.8; Bowel cancer predisposition; Familial Adenomatous Polyposis; Adult and child
Additional findings health related v0.55 APOB Sarah Leigh edited their review of gene: APOB: Added comment: Familial Hypercholesterolemia 2, Familial ligand-defective apolipoprotein B-100 (FDB)
• Monoallelic
• Mostly missense variants
• Terminating variants unlikely to be involved
• Prevents the LDL particle from binding with cell surface receptors (LDLR)
• Increased levels of cholesterol in blood; Changed rating: GREEN
Additional findings health related v0.55 RET Ellen McDonagh Source Additional Findings was removed from RET.
Source ACMG was removed from RET.
Source Other was added to RET.
Mode of pathogenicity for gene RET was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Additional findings health related v0.51 APOB Ellen McDonagh Source Additional Findings was removed from APOB.
Source ACMG was removed from APOB.
Source Other was added to APOB.
Mode of pathogenicity for gene APOB was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Additional findings health related v0.50 Ellen McDonagh Panel name changed from Genomics England Secondary Findings to Genomics England Additional Findings
Additional findings health related v0.49 Ellen McDonagh Panel status changed from internal to public
Additional findings health related VHL Ellen McDonagh classified VHL as Green List (high evidence)
Additional findings health related RET Ellen McDonagh classified RET as Green List (high evidence)
Additional findings health related PCSK9 Ellen McDonagh classified PCSK9 as Green List (high evidence)
Additional findings health related MUTYH Ellen McDonagh classified MUTYH as Green List (high evidence)
Additional findings health related MSH6 Ellen McDonagh classified MSH6 as Green List (high evidence)
Additional findings health related MSH2 Ellen McDonagh classified MSH2 as Green List (high evidence)
Additional findings health related MLH1 Ellen McDonagh classified MLH1 as Green List (high evidence)
Additional findings health related MEN1 Ellen McDonagh classified MEN1 as Green List (high evidence)
Additional findings health related LDLR Ellen McDonagh classified LDLR as Green List (high evidence)
Additional findings health related CFTR Ellen McDonagh classified CFTR as Green List (high evidence)
Additional findings health related CFTR Ellen McDonagh marked CFTR as ready
Additional findings health related BRCA2 Ellen McDonagh classified BRCA2 as Green List (high evidence)
Additional findings health related BRCA1 Ellen McDonagh classified BRCA1 as Green List (high evidence)
Additional findings health related APOB Ellen McDonagh classified APOB as Green List (high evidence)
Additional findings health related APC Ellen McDonagh classified APC as Green List (high evidence)
Additional findings health related VHL Ellen McDonagh Added gene to panel
Additional findings health related RET Ellen McDonagh Added gene to panel
Additional findings health related PCSK9 Ellen McDonagh Added gene to panel
Additional findings health related MUTYH Ellen McDonagh Added gene to panel
Additional findings health related MSH6 Ellen McDonagh Added gene to panel
Additional findings health related MSH2 Ellen McDonagh Added gene to panel
Additional findings health related MLH1 Ellen McDonagh Added gene to panel
Additional findings health related MEN1 Ellen McDonagh Added gene to panel
Additional findings health related LDLR Ellen McDonagh Added gene to panel
Additional findings health related CFTR Ellen McDonagh Added gene to panel
Additional findings health related BRCA2 Ellen McDonagh Added gene to panel
Additional findings health related BRCA1 Ellen McDonagh Added gene to panel
Additional findings health related APOB Ellen McDonagh Added gene to panel
Additional findings health related APC Ellen McDonagh Added gene to panel