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Sarcoma cancer susceptibility v1.15 Louise Daugherty List of related panels changed from Sarcoma;Sarcoma pertinent cancer susceptibility to Sarcoma; Sarcoma pertinent cancer susceptibility
Sarcoma cancer susceptibility v1.14 Rebecca Foulger Panel types changed to Cancer Germline 100K
Sarcoma cancer susceptibility v1.13 Ellen McDonagh Panel types changed to Cancer Germline 100K; GMS Cancer Germline Virtual
Sarcoma cancer susceptibility v1.12 FH Ellen McDonagh Classified gene: FH as Amber List (moderate evidence)
Sarcoma cancer susceptibility v1.12 FH Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber, awaiting clinical expert review. This is a Green gene on the Adult solid tumours cancer susceptibility panel version 1.2 for Werner syndrome. It is a confirmed cancer gene in Gene2Phenotype for LEIOMYOMATOSIS AND RENAL CELL CANCER (monoallelic mode of inheritance).
Sarcoma cancer susceptibility v1.12 FH Ellen McDonagh Gene: fh has been classified as Amber List (Moderate Evidence).
Sarcoma cancer susceptibility v1.11 WRN Ellen McDonagh Classified gene: WRN as Amber List (moderate evidence)
Sarcoma cancer susceptibility v1.11 WRN Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber, awaiting expert clinical review. This is a Green gene on the Childhood solid tumours cancer susceptibility panel version 1.2 and the Thyroid cancer pertinent cancer susceptibility panel version 1.0 for Werner syndrome. It is a confirmed cancer gene in Gen2Phenotype for Werner syndrome.
Sarcoma cancer susceptibility v1.11 WRN Ellen McDonagh Gene: wrn has been classified as Amber List (Moderate Evidence).
Sarcoma cancer susceptibility v1.10 WRN Ellen McDonagh gene: WRN was added
gene: WRN was added to Sarcoma cancer susceptibility. Sources: Expert list
Mode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WRN were set to Werner syndrome 277700
Added comment: This gene was requested to be added to this panel by Shazia Mahamdallie (GOSH).
Sources: Expert list
Sarcoma cancer susceptibility v1.9 FH Ellen McDonagh gene: FH was added
gene: FH was added to Sarcoma cancer susceptibility. Sources: Expert Review
Mode of inheritance for gene: FH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FH were set to Leiomyomatosis and renal cell cancer 150800
Added comment: This gene was requested to be added to this panel by Shazia Mahamdallie (GOSH).
Sources: Expert Review
Sarcoma cancer susceptibility v1.8 EXT2 Ellen McDonagh commented on gene: EXT2
Sarcoma cancer susceptibility v1.8 EXT1 Ellen McDonagh commented on gene: EXT1
Sarcoma cancer susceptibility v1.8 EXT2 Ellen McDonagh gene: EXT2 was added
gene: EXT2 was added to Sarcoma cancer susceptibility. Sources: Other,Expert Review Amber
Mode of inheritance for gene: EXT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EXT2 were set to 29529714; 23770606; 27636706; 7726168
Phenotypes for gene: EXT2 were set to Exostoses, multiple, type 2
Sarcoma cancer susceptibility v1.8 EXT1 Ellen McDonagh gene: EXT1 was added
gene: EXT1 was added to Sarcoma cancer susceptibility. Sources: Other,Expert Review Amber
Mode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EXT1 were set to 23770606; 10441575; 29529714
Phenotypes for gene: EXT1 were set to Chondrosarcoma 215300
Sarcoma cancer susceptibility v1.7 Ellen McDonagh Panel name changed from Sarcoma pertinent cancer susceptibility to Sarcoma cancer susceptibility
List of related panels changed from Sarcoma to Sarcoma;Sarcoma pertinent cancer susceptibility
Sarcoma cancer susceptibility v1.2 WT1 Ellen McDonagh reviewed gene: WT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Wilms tumour 1, 194070; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma cancer susceptibility v1.2 PAX7 Ellen McDonagh reviewed gene: PAX7: Rating: RED; Mode of pathogenicity: ; Publications: 25768946; Phenotypes: Rhabdomyosarcoma 2, alveolar, 268220; Mode of inheritance: Other - please specifiy in evaluation comments
Sarcoma cancer susceptibility v1.2 PAX3 Ellen McDonagh reviewed gene: PAX3: Rating: RED; Mode of pathogenicity: ; Publications: 25768946; Phenotypes: Rhabdomyosarcoma, alveolar, 268220; Mode of inheritance: Other - please specifiy in evaluation comments
Sarcoma cancer susceptibility v1.2 KRAS Ellen McDonagh reviewed gene: KRAS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Nevus, Epidermal 162900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma cancer susceptibility v1.2 FOXO1 Ellen McDonagh reviewed gene: FOXO1: Rating: RED; Mode of pathogenicity: ; Publications: 25768946; Phenotypes: Rhabdomyosarcoma, alveolar, 268220; Mode of inheritance: Other - please specifiy in evaluation comments
Sarcoma cancer susceptibility v1.2 DICER1 Ellen McDonagh reviewed gene: DICER1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pleuropulmonary blastoma, 601200, Rhabdomyosarcoma, embryonal, 2, 180295; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma cancer susceptibility v1.2 CREBBP Ellen McDonagh reviewed gene: CREBBP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Rubinstein-Taybi syndrome 1, 180849; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma cancer susceptibility v1.2 SDHD Ellen McDonagh reviewed gene: SDHD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma cancer susceptibility v1.2 SDHC Ellen McDonagh reviewed gene: SDHC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma cancer susceptibility v1.2 SDHB Ellen McDonagh reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma cancer susceptibility v1.2 SDHA Ellen McDonagh reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma cancer susceptibility v1.2 KIT Ellen McDonagh reviewed gene: KIT: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma cancer susceptibility v1.2 RB1 Ellen McDonagh reviewed gene: RB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinoblastoma, 180200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma cancer susceptibility v1.2 PMS2 Ellen McDonagh reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mismatch repair cancer syndrome, 276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Sarcoma cancer susceptibility v1.2 NF1 Ellen McDonagh reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurofibromatosis, type 1 162200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma cancer susceptibility v1.2 NBN Ellen McDonagh reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nijmegen breakage syndrome, 251260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Sarcoma cancer susceptibility v1.2 MSH6 Ellen McDonagh reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mismatch repair cancer syndrome, 276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Sarcoma cancer susceptibility v1.2 MSH2 Ellen McDonagh reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mismatch repair cancer syndrome, 276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Sarcoma cancer susceptibility v1.2 MLH1 Ellen McDonagh reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mismatch repair cancer syndrome, 276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Sarcoma cancer susceptibility v1.2 HRAS Ellen McDonagh reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Costello syndrome, 218040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma cancer susceptibility v1.2 CDKN1C Ellen McDonagh reviewed gene: CDKN1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Beckwith-Wiedemann syndrome, 130650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma cancer susceptibility v1.2 BUB1B Ellen McDonagh reviewed gene: BUB1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mosaic variegated aneuploidy syndrome 1, 257300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Sarcoma cancer susceptibility v1.1 WT1 Ellen McDonagh gene: WT1 was added
gene: WT1 was added to Sarcoma pertinent cancer susceptibility. Sources: Literature,Expert Review Red
Mode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WT1 were set to Wilms tumour 1, 194070
Sarcoma cancer susceptibility v1.1 PAX7 Ellen McDonagh gene: PAX7 was added
gene: PAX7 was added to Sarcoma pertinent cancer susceptibility. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red
Mode of inheritance for gene: PAX7 was set to Other - please specifiy in evaluation comments
Publications for gene: PAX7 were set to 25768946
Phenotypes for gene: PAX7 were set to Rhabdomyosarcoma 2, alveolar, 268220
Sarcoma cancer susceptibility v1.1 PAX3 Ellen McDonagh gene: PAX3 was added
gene: PAX3 was added to Sarcoma pertinent cancer susceptibility. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red
Mode of inheritance for gene: PAX3 was set to Other - please specifiy in evaluation comments
Publications for gene: PAX3 were set to 25768946
Phenotypes for gene: PAX3 were set to Rhabdomyosarcoma, alveolar, 268220
Sarcoma cancer susceptibility v1.1 KRAS Ellen McDonagh gene: KRAS was added
gene: KRAS was added to Sarcoma pertinent cancer susceptibility. Sources: Literature,Expert Review Red
Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KRAS were set to Nevus, Epidermal 162900
Sarcoma cancer susceptibility v1.1 FOXO1 Ellen McDonagh gene: FOXO1 was added
gene: FOXO1 was added to Sarcoma pertinent cancer susceptibility. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red
Mode of inheritance for gene: FOXO1 was set to Other - please specifiy in evaluation comments
Publications for gene: FOXO1 were set to 25768946
Phenotypes for gene: FOXO1 were set to Rhabdomyosarcoma, alveolar, 268220
Sarcoma cancer susceptibility v1.1 DICER1 Ellen McDonagh gene: DICER1 was added
gene: DICER1 was added to Sarcoma pertinent cancer susceptibility. Sources: Literature,Expert Review Red
Mode of inheritance for gene: DICER1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DICER1 were set to Pleuropulmonary blastoma, 601200; Rhabdomyosarcoma, embryonal, 2, 180295
Sarcoma cancer susceptibility v1.1 CREBBP Ellen McDonagh gene: CREBBP was added
gene: CREBBP was added to Sarcoma pertinent cancer susceptibility. Sources: Literature,Expert Review Red
Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CREBBP were set to Rubinstein-Taybi syndrome 1, 180849
Sarcoma cancer susceptibility v1.1 SDHD Ellen McDonagh gene: SDHD was added
gene: SDHD was added to Sarcoma pertinent cancer susceptibility. Sources: Expert List,Expert Review Amber
Mode of inheritance for gene: SDHD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma cancer susceptibility v1.1 SDHC Ellen McDonagh gene: SDHC was added
gene: SDHC was added to Sarcoma pertinent cancer susceptibility. Sources: Expert List,Expert Review Amber
Mode of inheritance for gene: SDHC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma cancer susceptibility v1.1 SDHB Ellen McDonagh gene: SDHB was added
gene: SDHB was added to Sarcoma pertinent cancer susceptibility. Sources: Expert List,Expert Review Amber
Mode of inheritance for gene: SDHB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma cancer susceptibility v1.1 SDHA Ellen McDonagh gene: SDHA was added
gene: SDHA was added to Sarcoma pertinent cancer susceptibility. Sources: Expert List,Expert Review Amber
Mode of inheritance for gene: SDHA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma cancer susceptibility v1.1 KIT Ellen McDonagh gene: KIT was added
gene: KIT was added to Sarcoma pertinent cancer susceptibility. Sources: Expert List,Expert Review Amber
Mode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of pathogenicity for gene: KIT was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Sarcoma cancer susceptibility v1.1 RB1 Ellen McDonagh gene: RB1 was added
gene: RB1 was added to Sarcoma pertinent cancer susceptibility. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: RB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RB1 were set to Retinoblastoma, 180200
Sarcoma cancer susceptibility v1.1 PMS2 Ellen McDonagh gene: PMS2 was added
gene: PMS2 was added to Sarcoma pertinent cancer susceptibility. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: PMS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMS2 were set to Mismatch repair cancer syndrome, 276300
Sarcoma cancer susceptibility v1.1 NF1 Ellen McDonagh gene: NF1 was added
gene: NF1 was added to Sarcoma pertinent cancer susceptibility. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NF1 were set to Neurofibromatosis, type 1 162200
Sarcoma cancer susceptibility v1.1 NBN Ellen McDonagh gene: NBN was added
gene: NBN was added to Sarcoma pertinent cancer susceptibility. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NBN were set to Nijmegen breakage syndrome, 251260
Sarcoma cancer susceptibility v1.1 MSH6 Ellen McDonagh gene: MSH6 was added
gene: MSH6 was added to Sarcoma pertinent cancer susceptibility. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: MSH6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MSH6 were set to Mismatch repair cancer syndrome, 276300
Sarcoma cancer susceptibility v1.1 MSH2 Ellen McDonagh gene: MSH2 was added
gene: MSH2 was added to Sarcoma pertinent cancer susceptibility. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: MSH2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MSH2 were set to Mismatch repair cancer syndrome, 276300
Sarcoma cancer susceptibility v1.1 MLH1 Ellen McDonagh gene: MLH1 was added
gene: MLH1 was added to Sarcoma pertinent cancer susceptibility. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: MLH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLH1 were set to Mismatch repair cancer syndrome, 276300
Sarcoma cancer susceptibility v1.1 HRAS Ellen McDonagh gene: HRAS was added
gene: HRAS was added to Sarcoma pertinent cancer susceptibility. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HRAS were set to Costello syndrome, 218040
Sarcoma cancer susceptibility v1.1 CDKN1C Ellen McDonagh gene: CDKN1C was added
gene: CDKN1C was added to Sarcoma pertinent cancer susceptibility. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CDKN1C were set to Beckwith-Wiedemann syndrome, 130650
Sarcoma cancer susceptibility v1.1 BUB1B Ellen McDonagh gene: BUB1B was added
gene: BUB1B was added to Sarcoma pertinent cancer susceptibility. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BUB1B were set to Mosaic variegated aneuploidy syndrome 1, 257300
Sarcoma cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Sarcoma cancer susceptibility T Ellen McDonagh commented on gene: T
Sarcoma cancer susceptibility SQSTM1 Ellen McDonagh commented on gene: SQSTM1
Sarcoma cancer susceptibility RECQL4 Ellen McDonagh commented on gene: RECQL4
Sarcoma cancer susceptibility PDGFRA Ellen McDonagh commented on gene: PDGFRA
Sarcoma cancer susceptibility MTAP Ellen McDonagh commented on gene: MTAP
Sarcoma cancer susceptibility T Louise Daugherty commented on T
Sarcoma cancer susceptibility T Ellen McDonagh commented on T
Sarcoma cancer susceptibility T Ellen McDonagh classified T as Green List (high evidence)
Sarcoma cancer susceptibility T Ellen McDonagh Added gene to panel
Sarcoma cancer susceptibility TNFRSF11A Ellen McDonagh commented on TNFRSF11A
Sarcoma cancer susceptibility TNFRSF11A Ellen McDonagh classified TNFRSF11A as Red List (low evidence)
Sarcoma cancer susceptibility TNFRSF11A Ellen McDonagh Added gene to panel
Sarcoma cancer susceptibility SQSTM1 Ellen McDonagh classified SQSTM1 as Green List (high evidence)
Sarcoma cancer susceptibility SQSTM1 Ellen McDonagh commented on SQSTM1
Sarcoma cancer susceptibility SQSTM1 Ellen McDonagh Added gene to panel
Sarcoma cancer susceptibility RECQL4 Ellen McDonagh classified RECQL4 as Green List (high evidence)
Sarcoma cancer susceptibility RECQL4 Ellen McDonagh Added gene to panel
Sarcoma cancer susceptibility PDGFRA Ellen McDonagh classified PDGFRA as Green List (high evidence)
Sarcoma cancer susceptibility PDGFRA Ellen McDonagh commented on PDGFRA
Sarcoma cancer susceptibility PDGFRA Ellen McDonagh Added gene to panel
Sarcoma cancer susceptibility MTAP Ellen McDonagh commented on MTAP
Sarcoma cancer susceptibility MTAP Ellen McDonagh classified MTAP as Green List (high evidence)
Sarcoma cancer susceptibility MTAP Ellen McDonagh Added gene to panel
Sarcoma cancer susceptibility Ellen McDonagh approved panel
Sarcoma cancer susceptibility TP53 Ellen McDonagh classified TP53 as green
Sarcoma cancer susceptibility TP53 Ellen McDonagh commented on TP53