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Kidney Cancer v2.0 SDHAF2 Gene migrated from ENSG00000167985 to ENSG00000167985 (gene set migration)
Kidney Cancer v2.0 PBRM1 Gene migrated from ENSG00000163939 to ENSG00000163939 (gene set migration)
Kidney Cancer v2.0 TSC2 Gene migrated from ENSG00000103197 to ENSG00000103197 (gene set migration)
Kidney Cancer v2.0 TSC1 Gene migrated from ENSG00000165699 to ENSG00000165699 (gene set migration)
Kidney Cancer v2.0 SDHD Gene migrated from ENSG00000204370 to ENSG00000204370 (gene set migration)
Kidney Cancer v2.0 SDHC Gene migrated from ENSG00000143252 to ENSG00000143252 (gene set migration)
Kidney Cancer v2.0 SDHB Gene migrated from ENSG00000117118 to ENSG00000117118 (gene set migration)
Kidney Cancer v2.0 SDHA Gene migrated from ENSG00000073578 to ENSG00000073578 (gene set migration)
Kidney Cancer v2.0 PTEN Gene migrated from ENSG00000171862 to ENSG00000171862 (gene set migration)
Kidney Cancer v2.0 MET Gene migrated from ENSG00000105976 to ENSG00000105976 (gene set migration)
Kidney Cancer v2.0 FLCN Gene migrated from ENSG00000154803 to ENSG00000154803 (gene set migration)
Kidney Cancer v2.0 FH Gene migrated from ENSG00000091483 to ENSG00000091483 (gene set migration)
Kidney Cancer v2.0 BAP1 Gene migrated from ENSG00000163930 to ENSG00000163930 (gene set migration)
Kidney Cancer v2.0 VHL Gene migrated from ENSG00000134086 to ENSG00000134086 (gene set migration)
Kidney Cancer v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.12
Kidney Cancer v1.12 PBRM1 Bryony Thompson gene: PBRM1 was added
gene: PBRM1 was added to Kidney Cancer. Sources: Literature
Mode of inheritance for gene: PBRM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PBRM1 were set to 25911086
Phenotypes for gene: PBRM1 were set to renal cell carcinoma MONDO:0005086
Review for gene: PBRM1 was set to RED
Added comment: A single family reported.
Sources: Literature
Kidney Cancer v1.11 Krithika Murali removed gene:MSH6 from the panel
Kidney Cancer v1.10 Krithika Murali removed gene:MLH1 from the panel
Kidney Cancer v1.9 Krithika Murali removed gene:MSH2 from the panel
Kidney Cancer v1.8 MSH6 Krithika Murali Marked gene: MSH6 as ready
Kidney Cancer v1.8 MSH6 Krithika Murali Gene: msh6 has been classified as Green List (High Evidence).
Kidney Cancer v1.8 MSH6 Krithika Murali Classified gene: MSH6 as Green List (high evidence)
Kidney Cancer v1.8 MSH6 Krithika Murali Gene: msh6 has been classified as Green List (High Evidence).
Kidney Cancer v1.7 MSH2 Krithika Murali Marked gene: MSH2 as ready
Kidney Cancer v1.7 MSH2 Krithika Murali Gene: msh2 has been classified as Green List (High Evidence).
Kidney Cancer v1.7 MSH2 Krithika Murali Classified gene: MSH2 as Green List (high evidence)
Kidney Cancer v1.7 MSH2 Krithika Murali Gene: msh2 has been classified as Green List (High Evidence).
Kidney Cancer v1.6 MLH1 Krithika Murali Marked gene: MLH1 as ready
Kidney Cancer v1.6 MLH1 Krithika Murali Gene: mlh1 has been classified as Green List (High Evidence).
Kidney Cancer v1.6 MLH1 Krithika Murali Classified gene: MLH1 as Green List (high evidence)
Kidney Cancer v1.6 MLH1 Krithika Murali Gene: mlh1 has been classified as Green List (High Evidence).
Kidney Cancer v1.5 MLH1 Krithika Murali gene: MLH1 was added
gene: MLH1 was added to Kidney Cancer. Sources: Expert List,Expert Review
Mode of inheritance for gene: MLH1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: MLH1 were set to PMID: 28754778
Phenotypes for gene: MLH1 were set to Lynch syndrome - MONDO:0005835; Mismatch repair cancer syndrome 1 MONDO:0010159
Review for gene: MLH1 was set to GREEN
Added comment: Elevated lifetime risk of urothelial carcinoma (mainly ureteric and renal pelvis cancers but can include bladder cancer) - PMID: 28754778; eviQ.
Sources: Expert List, Expert Review
Kidney Cancer v1.4 MSH2 Krithika Murali gene: MSH2 was added
gene: MSH2 was added to Kidney Cancer. Sources: Expert Review,Expert List
Mode of inheritance for gene: MSH2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: MSH2 were set to PMID: 28754778
Phenotypes for gene: MSH2 were set to Lynch syndrome - MONDO:0005835; Mismatch repair cancer syndrome 1 MONDO:0010159
Review for gene: MSH2 was set to GREEN
Added comment: Elevated lifetime risk of urothelial carcinoma (mainly ureteric and renal pelvis cancers but can include bladder cancer) - PMID: 28754778; eviQ.
Sources: Expert Review, Expert List
Kidney Cancer v1.3 MSH6 Krithika Murali gene: MSH6 was added
gene: MSH6 was added to Kidney Cancer. Sources: Expert List,Expert Review
Mode of inheritance for gene: MSH6 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: MSH6 were set to PMID: 28754778
Phenotypes for gene: MSH6 were set to Lynch syndrome - MONDO:0005835; Mismatch repair cancer syndrome 1 MONDO:0010159
Review for gene: MSH6 was set to GREEN
Added comment: Elevated lifetime risk of urothelial carcinoma (mainly ureteric and renal pelvis cancers but can include bladder cancer) - PMID: 28754778; eviQ.
Sources: Expert List, Expert Review
Kidney Cancer v1.2 SDHAF2 chirag patel Classified gene: SDHAF2 as Red List (low evidence)
Kidney Cancer v1.2 SDHAF2 chirag patel Gene: sdhaf2 has been classified as Red List (Low Evidence).
Kidney Cancer v1.1 SDHAF2 chirag patel Deleted their comment
Kidney Cancer v1.1 SDHAF2 chirag patel changed review comment from: ClinGen definitive. Renal carcinoma reported in condition.
Sources: Expert list, Expert Review; to: ClinGen definitive for HPP.
Renal carcinoma reported in HPP but no evidence in SDHAF2-related HPP.
Sources: Expert list, Expert Review
Kidney Cancer v1.1 SDHAF2 chirag patel edited their review of gene: SDHAF2: Added comment: evidence of renal cancers in SDHAF2-related HPP; Changed rating: RED
Kidney Cancer v1.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital
Kidney Cancer v1.0 Zornitza Stark promoted panel to version 1.0
Kidney Cancer v0.27 Zornitza Stark Panel status changed from internal to public
Kidney Cancer v0.26 VHL Zornitza Stark Marked gene: VHL as ready
Kidney Cancer v0.26 VHL Zornitza Stark Gene: vhl has been classified as Green List (High Evidence).
Kidney Cancer v0.26 TSC2 Zornitza Stark Marked gene: TSC2 as ready
Kidney Cancer v0.26 TSC2 Zornitza Stark Gene: tsc2 has been classified as Green List (High Evidence).
Kidney Cancer v0.26 TSC1 Zornitza Stark Marked gene: TSC1 as ready
Kidney Cancer v0.26 TSC1 Zornitza Stark Gene: tsc1 has been classified as Green List (High Evidence).
Kidney Cancer v0.26 SDHD Zornitza Stark Marked gene: SDHD as ready
Kidney Cancer v0.26 SDHD Zornitza Stark Gene: sdhd has been classified as Green List (High Evidence).
Kidney Cancer v0.26 SDHC Zornitza Stark Marked gene: SDHC as ready
Kidney Cancer v0.26 SDHC Zornitza Stark Gene: sdhc has been classified as Green List (High Evidence).
Kidney Cancer v0.26 SDHB Zornitza Stark Marked gene: SDHB as ready
Kidney Cancer v0.26 SDHB Zornitza Stark Gene: sdhb has been classified as Green List (High Evidence).
Kidney Cancer v0.26 SDHAF2 Zornitza Stark Marked gene: SDHAF2 as ready
Kidney Cancer v0.26 SDHAF2 Zornitza Stark Gene: sdhaf2 has been classified as Green List (High Evidence).
Kidney Cancer v0.26 SDHA Zornitza Stark Marked gene: SDHA as ready
Kidney Cancer v0.26 SDHA Zornitza Stark Gene: sdha has been classified as Green List (High Evidence).
Kidney Cancer v0.26 PTEN Zornitza Stark Marked gene: PTEN as ready
Kidney Cancer v0.26 PTEN Zornitza Stark Gene: pten has been classified as Green List (High Evidence).
Kidney Cancer v0.26 MET Zornitza Stark Marked gene: MET as ready
Kidney Cancer v0.26 MET Zornitza Stark Gene: met has been classified as Green List (High Evidence).
Kidney Cancer v0.26 FLCN Zornitza Stark Marked gene: FLCN as ready
Kidney Cancer v0.26 FLCN Zornitza Stark Gene: flcn has been classified as Green List (High Evidence).
Kidney Cancer v0.26 FH Zornitza Stark Marked gene: FH as ready
Kidney Cancer v0.26 FH Zornitza Stark Gene: fh has been classified as Green List (High Evidence).
Kidney Cancer v0.26 BAP1 Zornitza Stark Marked gene: BAP1 as ready
Kidney Cancer v0.26 BAP1 Zornitza Stark Gene: bap1 has been classified as Green List (High Evidence).
Kidney Cancer v0.26 BAP1 chirag patel Classified gene: BAP1 as Green List (high evidence)
Kidney Cancer v0.26 BAP1 chirag patel Gene: bap1 has been classified as Green List (High Evidence).
Kidney Cancer v0.25 FH chirag patel Classified gene: FH as Green List (high evidence)
Kidney Cancer v0.25 FH chirag patel Gene: fh has been classified as Green List (High Evidence).
Kidney Cancer v0.24 FLCN chirag patel Classified gene: FLCN as Green List (high evidence)
Kidney Cancer v0.24 FLCN chirag patel Gene: flcn has been classified as Green List (High Evidence).
Kidney Cancer v0.23 PTEN chirag patel Classified gene: PTEN as Green List (high evidence)
Kidney Cancer v0.23 PTEN chirag patel Gene: pten has been classified as Green List (High Evidence).
Kidney Cancer v0.22 MET chirag patel Classified gene: MET as Green List (high evidence)
Kidney Cancer v0.22 MET chirag patel Gene: met has been classified as Green List (High Evidence).
Kidney Cancer v0.21 MET chirag patel gene: MET was added
gene: MET was added to Kidney Cancer. Sources: Expert list,Expert Review
Mode of inheritance for gene: MET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MET were set to Renal carcinoma, MONDO:0005206; Papillary renal cell carcinoma, MONDO:0017884; Renal cell carcinoma, papillary, 1, familial, MIM#605074
Mode of pathogenicity for gene: MET was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: MET was set to GREEN
Added comment: ClinGen definitive. GOF variants.
Sources: Expert list, Expert Review
Kidney Cancer v0.20 PTEN chirag patel gene: PTEN was added
gene: PTEN was added to Kidney Cancer. Sources: Expert list,Expert Review
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTEN were set to Renal carcinoma, MONDO:0005206; PTEN hamartoma tumor syndrome, MONDO:0017623; PTEN hamartoma tumour syndromes, MIM#158350
Review for gene: PTEN was set to GREEN
Added comment: ClinGen definitive. Renal carcinoma reported in condition.
Sources: Expert list, Expert Review
Kidney Cancer v0.19 FLCN chirag patel gene: FLCN was added
gene: FLCN was added to Kidney Cancer. Sources: Expert list,Expert Review
Mode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FLCN were set to Renal carcinoma, MONDO:0005206; Birt-Hogg-Dube syndrome 1, MONDO:0800445; Birt-Hogg-Dube syndrome, MIM#135150
Review for gene: FLCN was set to GREEN
Added comment: ClinGen definitive. Renal carcinoma reported in condition.
Sources: Expert list, Expert Review
Kidney Cancer v0.18 FH chirag patel gene: FH was added
gene: FH was added to Kidney Cancer. Sources: Expert list,Expert Review
Mode of inheritance for gene: FH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FH were set to Renal carcinoma, MONDO:0005206; Hereditary leiomyomatosis and renal cell cancer, MONDO:0007888; Leiomyomatosis and renal cell cancer, MIM#150800
Review for gene: FH was set to GREEN
Added comment: ClinGen definitive. Renal carcinoma reported in condition.
Sources: Expert list, Expert Review
Kidney Cancer v0.17 BAP1 chirag patel gene: BAP1 was added
gene: BAP1 was added to Kidney Cancer. Sources: Expert list,Expert Review
Mode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BAP1 were set to Renal carcinoma, MONDO:0005206; BAP1-related tumor predisposition syndrome, MONDO:0013692; BAP1-tumour predisposition syndrome, MIM#614327
Review for gene: BAP1 was set to GREEN
Added comment: ClinGen definitive. Renal carcinoma reported in condition.
Sources: Expert list, Expert Review
Kidney Cancer v0.16 TSC1 chirag patel Classified gene: TSC1 as Green List (high evidence)
Kidney Cancer v0.16 TSC1 chirag patel Gene: tsc1 has been classified as Green List (High Evidence).
Kidney Cancer v0.15 TSC2 chirag patel Classified gene: TSC2 as Green List (high evidence)
Kidney Cancer v0.15 TSC2 chirag patel Gene: tsc2 has been classified as Green List (High Evidence).
Kidney Cancer v0.14 VHL chirag patel Classified gene: VHL as Green List (high evidence)
Kidney Cancer v0.14 VHL chirag patel Gene: vhl has been classified as Green List (High Evidence).
Kidney Cancer v0.13 VHL chirag patel gene: VHL was added
gene: VHL was added to Kidney Cancer. Sources: Expert list,Expert Review
Mode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VHL were set to Renal carcinoma, MONDO:0005206; Von Hippel-Lindau disease, MONDO:0008667; von Hippel-Lindau syndrome, MIM#193300; Pheochromocytoma, susceptibility to, MIM#171300
Review for gene: VHL was set to GREEN
Added comment: ClinGen definitive. Renal carcinoma reported in condition.
Sources: Expert list, Expert Review
Kidney Cancer v0.12 TSC2 chirag patel gene: TSC2 was added
gene: TSC2 was added to Kidney Cancer. Sources: Expert list,Expert Review
Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TSC2 were set to Renal carcinoma, MONDO:0005206; Tuberous sclerosis 2, MONDO:0013199; Tuberous sclerosis-2, MIM#613254
Review for gene: TSC2 was set to GREEN
Added comment: ClinGen definitive. Renal carcinoma reported in condition.
Sources: Expert list, Expert Review
Kidney Cancer v0.11 TSC1 chirag patel gene: TSC1 was added
gene: TSC1 was added to Kidney Cancer. Sources: Expert list,Expert Review
Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TSC1 were set to Renal carcinoma, MONDO:0005206; Tuberous sclerosis 1, MONDO:0008612; Tuberous sclerosis-1, MIM#191100
Review for gene: TSC1 was set to GREEN
Added comment: ClinGen definitive. Renal carcinoma reported in condition.
Sources: Expert list, Expert Review
Kidney Cancer v0.10 SDHD chirag patel Classified gene: SDHD as Green List (high evidence)
Kidney Cancer v0.10 SDHD chirag patel Gene: sdhd has been classified as Green List (High Evidence).
Kidney Cancer v0.9 SDHC chirag patel Classified gene: SDHC as Green List (high evidence)
Kidney Cancer v0.9 SDHC chirag patel Gene: sdhc has been classified as Green List (High Evidence).
Kidney Cancer v0.8 SDHB chirag patel Classified gene: SDHB as Green List (high evidence)
Kidney Cancer v0.8 SDHB chirag patel Gene: sdhb has been classified as Green List (High Evidence).
Kidney Cancer v0.7 SDHAF2 chirag patel Classified gene: SDHAF2 as Green List (high evidence)
Kidney Cancer v0.7 SDHAF2 chirag patel Gene: sdhaf2 has been classified as Green List (High Evidence).
Kidney Cancer v0.6 SDHA chirag patel Classified gene: SDHA as Green List (high evidence)
Kidney Cancer v0.6 SDHA chirag patel Gene: sdha has been classified as Green List (High Evidence).
Kidney Cancer v0.5 SDHA chirag patel gene: SDHA was added
gene: SDHA was added to Kidney Cancer. Sources: Expert list,Expert Review
Mode of inheritance for gene: SDHA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHA were set to Renal carcinoma, MONDO:0005206; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 5, MIM#614165
Review for gene: SDHA was set to GREEN
Added comment: ClinGen definitive. Renal carcinoma reported in condition.
Sources: Expert list, Expert Review
Kidney Cancer v0.4 SDHAF2 chirag patel gene: SDHAF2 was added
gene: SDHAF2 was added to Kidney Cancer. Sources: Expert list,Expert Review
Mode of inheritance for gene: SDHAF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHAF2 were set to Renal carcinoma, MONDO:0005206; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 2, MIM#601650
Review for gene: SDHAF2 was set to GREEN
Added comment: ClinGen definitive. Renal carcinoma reported in condition.
Sources: Expert list, Expert Review
Kidney Cancer v0.3 SDHB chirag patel gene: SDHB was added
gene: SDHB was added to Kidney Cancer. Sources: Expert list,Expert Review
Mode of inheritance for gene: SDHB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHB were set to Renal carcinoma, MONDO:0005206; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 4, MIM#115310
Review for gene: SDHB was set to GREEN
Added comment: ClinGen definitive. Renal carcinoma reported in condition.
Sources: Expert list, Expert Review
Kidney Cancer v0.2 SDHC chirag patel gene: SDHC was added
gene: SDHC was added to Kidney Cancer. Sources: Expert list,Expert Review
Mode of inheritance for gene: SDHC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHC were set to Renal carcinoma, MONDO:0005206; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 3, MIM#605373
Review for gene: SDHC was set to GREEN
Added comment: ClinGen definitive. Renal carcinoma reported in condition.
Sources: Expert list, Expert Review
Kidney Cancer v0.1 SDHD chirag patel gene: SDHD was added
gene: SDHD was added to Kidney Cancer. Sources: Expert list,Expert Review
Mode of inheritance for gene: SDHD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHD were set to Renal carcinoma, MONDO:0005206; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 1, MIM#168000
Review for gene: SDHD was set to GREEN
Added comment: ClinGen definitive. Renal carcinoma reported in condition.
Sources: Expert list, Expert Review
Kidney Cancer v0.0 chirag patel Added Panel Kidney Cancer
Set panel types to: Cancer Germline