Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Sarcoma cancer susceptibility v1.25 | RECQL4 | Arina Puzriakova Phenotypes for gene: RECQL4 were changed from Rothmund-Thomson, Beller-Gerold and RAPADALINO syndromes; Osteosarcoma to Rothmund-Thomson syndrome, type 2, OMIM:268400; Osteosarcoma | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Sarcoma cancer susceptibility v1.24 | PDGFRA | Arina Puzriakova Phenotypes for gene: PDGFRA were changed from Familial GIST; Gastrointestinal stromal tumor, somatic 606764 to Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, OMIM:175510; Familial Gastrointestinal stromal tumour; Familial GIST | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Sarcoma cancer susceptibility v1.23 | T | Arina Puzriakova Publications for gene: T were set to 19801981; 23064415 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Sarcoma cancer susceptibility v1.22 | T | Arina Puzriakova Phenotypes for gene: T were changed from Familial Chordoma; Chordoma to Chordoma (disease), MONDO:0008978 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Sarcoma cancer susceptibility v1.21 | RECQL4 | Dmitrijs Rots reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31604778; Phenotypes: Osteosarcoma; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Sarcoma cancer susceptibility v1.21 | KIT | Arina Puzriakova Phenotypes for gene: KIT were changed from to Gastrointestinal stromal tumor, familial, OMIM:606764 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Sarcoma cancer susceptibility v1.20 | T |
Arina Puzriakova Tag cnvs was removed from gene: T. Tag cnv tag was added to gene: T. |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 | TP53 | Ellen McDonagh classified TP53 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Sarcoma cancer susceptibility | TP53 | Ellen McDonagh commented on TP53 |