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Sarcoma susceptibility v1.81 TP53 Arina Puzriakova Phenotypes for gene: TP53 were changed from Li-Fraumeni syndrome, OMIM:151623; Sarcoma, MONDO:0005089 to Li-Fraumeni syndrome, OMIM:151623; Solitary Fibrous Tumour; Sarcoma, MONDO:0005089
Sarcoma susceptibility v1.80 TP53 Arina Puzriakova Publications for gene: TP53 were set to 27050224; 28338660
Sarcoma susceptibility v1.79 TERT Arina Puzriakova Publications for gene: TERT were set to PMID: 31529158
Sarcoma susceptibility v1.78 TERT Arina Puzriakova Classified gene: TERT as Red List (low evidence)
Sarcoma susceptibility v1.78 TERT Arina Puzriakova Added comment: Comment on list classification: Although there is evidence to support that TERT promoter variants affect prognosis, they are not the driving alteration in SFT. Furthermore, this cancer panel is intended for germline susceptibility findings rather than somatic variants as described in the case of TERT.

Therefore, assigning a Red rating to the TERT gene on this panel.
Sarcoma susceptibility v1.78 TERT Arina Puzriakova Gene: tert has been classified as Red List (Low Evidence).
Sarcoma susceptibility v1.77 TERT Arina Puzriakova Tag promoter tag was added to gene: TERT.
Tag somatic tag was added to gene: TERT.
Sarcoma susceptibility v1.77 TERT Arina Puzriakova reviewed gene: TERT: Rating: ; Mode of pathogenicity: None; Publications: 24726063, 27562490, 29985536, 31529158, 31321477, 38392213, 38357190; Phenotypes: Solitary Fibrous Tumours; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma susceptibility v1.77 T Arina Puzriakova Publications for gene: T were set to 23064415; 19801981; 34837714
Sarcoma susceptibility v1.76 T Arina Puzriakova Publications for gene: T were set to 23064415; 19801981
Sarcoma susceptibility v1.75 TP53 Adrienne Flanagan reviewed gene: TP53: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31529158; Phenotypes: Solitary Fibrous Tumour; Mode of inheritance: None
Sarcoma susceptibility v1.75 TERT Adrienne Flanagan gene: TERT was added
gene: TERT was added to Sarcoma susceptibility. Sources: Literature,Other
Mode of inheritance for gene: TERT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TERT were set to PMID: 31529158
Phenotypes for gene: TERT were set to Solitary Fibrous Tumour
Review for gene: TERT was set to GREEN
Added comment: Solitary fibrous tumour (SFT) is a rare mesenchymal tumour with a wide anatomical distribution, including superficial and deep soft tissue, visceral organs and bone and is most common in adults. The tumours classified in the intermediate risk group by WHO grading system are difficult to prognosticate. Recent studies show that C228T TERT promoter (pTERT) mutation is associated with reduced survival in SFT. pTERT mutation is more common in intermediate and high-risk groups, and is associated with poorer outcome. Detection of the pTERT mutation has the potential to improve current prognostication and guide management of patients with intermediate-risk solitary fibrous tumours.
These findings were validated by a study presented at the 2023 joint winter meeting of Pathological Society with the RSM, abstract OF6:

https://www.pathsoc.org/_userfiles/pages/files/abstracts_booklet_winter_meeting_2023.pdf
Sources: Literature, Other
Sarcoma susceptibility v1.73 FANCC Arina Puzriakova Tag Q3_22_rating was removed from gene: FANCC.
Tag Q3_22_expert_review was removed from gene: FANCC.
Sarcoma susceptibility v1.73 FANCC Arina Puzriakova commented on gene: FANCC: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber. Expert review indicated that there is not sufficient evidence for this gene-disease association at this time.
Sarcoma susceptibility v1.72 FANCC Eleanor Williams commented on gene: FANCC
Sarcoma susceptibility v1.72 FANCC Eleanor Williams Tag Q3_22_rating tag was added to gene: FANCC.
Sarcoma susceptibility v1.72 FANCC Arina Puzriakova Tag Q3_22_expert_review tag was added to gene: FANCC.
Sarcoma susceptibility v1.72 FANCC Arina Puzriakova Publications for gene: FANCC were set to PMID: 35512711
Sarcoma susceptibility v1.71 FANCC Arina Puzriakova Classified gene: FANCC as Amber List (moderate evidence)
Sarcoma susceptibility v1.71 FANCC Arina Puzriakova Added comment: Comment on list classification: Rating Amber but will flag this gene for GMS review to determine whether there is enough evidence supporting contribution of germline variants in FANCC to sarcoma pathogenesis.

Gillani et al., (2022) reported statistically significant enrichment for predicted pathogenic germline variants in the FANCC gene in a cohort of European Ewing sarcoma patients. However, variants have reduced penetrance and the overall frequency of these variants was low (1.5% in discovery cohort, 0.8% in validation cohort).
Chan etl al., (2017) also identified another likely pathogenic frameshift deletion in FANCC in an individual with epitheloid sarcoma
Sarcoma susceptibility v1.71 FANCC Arina Puzriakova Gene: fancc has been classified as Amber List (Moderate Evidence).
Sarcoma susceptibility v1.70 FANCC Arina Puzriakova Phenotypes for gene: FANCC were changed from Ewing Sarcome to Ewing sarcoma, MONDO:0012817
Sarcoma susceptibility v1.69 T Arina Puzriakova Tag new-gene-name tag was added to gene: T.
Sarcoma susceptibility v1.69 T Arina Puzriakova commented on gene: T: Added new-gene-name tag, new approved HGNC gene symbol is TBXT
Sarcoma susceptibility v1.69 FANCC Dmitrijs Rots gene: FANCC was added
gene: FANCC was added to Sarcoma susceptibility. Sources: Literature
Mode of inheritance for gene: FANCC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FANCC were set to PMID: 35512711
Phenotypes for gene: FANCC were set to Ewing Sarcome
Penetrance for gene: FANCC were set to unknown
Review for gene: FANCC was set to GREEN
Added comment: At least 6 individuals in PMID: 35512711 with significant enrichment (OR=12 and 7 in discovery and validation cohorts, respectively)
Sources: Literature
Sarcoma susceptibility v1.69 T Arina Puzriakova Phenotypes for gene: T were changed from Susceptibility to Chordoma; Chordoma (disease), MONDO:0008978 to Chordoma (disease), MONDO:0008978
Sarcoma susceptibility v1.68 WT1 Arina Puzriakova Phenotypes for gene: WT1 were changed from Wilms tumour 1, 194070 to Wilms tumour 1, OMIM:194070; Rhabdomyosarcoma (disease), MONDO:0005212
Sarcoma susceptibility v1.67 TNFRSF11A Arina Puzriakova Phenotypes for gene: TNFRSF11A were changed from Paget disease of bone; Polyostotic osteolytic dysplasia (hereditary expansile); Osteosarcoma to {Paget disease of bone 2, early-onset}, OMIM:602080; Osteosarcoma (disease), MONDO:0009807
Sarcoma susceptibility v1.66 PDGFRA Arina Puzriakova Phenotypes for gene: PDGFRA were changed from Gastrointestinal stromal tumor, somatic 606764; Familial GIST to Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, OMIM:175510; Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal, MONDO:0008285
Sarcoma susceptibility v1.65 PAX7 Arina Puzriakova Phenotypes for gene: PAX7 were changed from Rhabdomyosarcoma 2, alveolar, 268220 to Rhabdomyosarcoma 2, alveolar, OMIM:268220
Sarcoma susceptibility v1.64 PAX3 Arina Puzriakova Phenotypes for gene: PAX3 were changed from Rhabdomyosarcoma, alveolar, 268220 to Rhabdomyosarcoma, alveolar, OMIM:268220
Sarcoma susceptibility v1.63 KRAS Arina Puzriakova changed review comment from: Comment on mode of inheritance: somatic mosaicism; to: Comment on mode of inheritance: One case with somatic mosaicism (PMID: 20805368)
Sarcoma susceptibility v1.63 KRAS Arina Puzriakova Added comment: Comment on mode of inheritance: somatic mosaicism
Sarcoma susceptibility v1.63 KRAS Arina Puzriakova Mode of inheritance for gene: KRAS was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Sarcoma susceptibility v1.62 KRAS Arina Puzriakova Publications for gene: KRAS were set to
Sarcoma susceptibility v1.61 KRAS Arina Puzriakova Phenotypes for gene: KRAS were changed from Nevus, Epidermal 162900 to Nevus, Epidermal, OMIM:162900; Rhabdomyosarcoma (disease), MONDO:0005212
Sarcoma susceptibility v1.60 FOXO1 Arina Puzriakova Phenotypes for gene: FOXO1 were changed from Rhabdomyosarcoma, alveolar, 268220 to Rhabdomyosarcoma, alveolar, OMIM:268220
Sarcoma susceptibility v1.59 DICER1 Arina Puzriakova Publications for gene: DICER1 were set to 30989777
Sarcoma susceptibility v1.58 CREBBP Arina Puzriakova Phenotypes for gene: CREBBP were changed from Rubinstein-Taybi syndrome 1, 180849 to Rubinstein-Taybi syndrome 1, OMIM:180849; Rhabdomyosarcoma (disease), MONDO:0005212
Sarcoma susceptibility v1.57 WRN Arina Puzriakova Phenotypes for gene: WRN were changed from Werner syndrome 277700 to Werner syndrome, OMIM:277700; Osteosarcoma (disease), MONDO:0009807
Sarcoma susceptibility v1.56 SMARCB1 Arina Puzriakova Mode of inheritance for gene: SMARCB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma susceptibility v1.55 SMARCB1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Coffin-Siris syndrome 3, OMIM:614608 and Rhabdoid tumors, somatic, OMIM:609322
Sarcoma susceptibility v1.55 SMARCB1 Arina Puzriakova Phenotypes for gene: SMARCB1 were changed from Rhabdoid tu, schwannomatosis to {Rhabdoid tumor predisposition syndrome 1}, OMIM:609322; Rhabdoid tumor predisposition syndrome 1, MONDO:0012252; {Schwannomatosis-1, susceptibility to}, OMIM:162091; Schwannomatosis 1, MONDO:0024517
Sarcoma susceptibility v1.54 SMARCA4 Arina Puzriakova Mode of inheritance for gene: SMARCA4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Sarcoma susceptibility v1.53 SMARCA4 Arina Puzriakova Phenotypes for gene: SMARCA4 were changed from undifferentiated uterine sarcoma to Uterine corpus sarcoma, MONDO:0005210
Sarcoma susceptibility v1.52 SDHD Arina Puzriakova Phenotypes for gene: SDHD were changed from to Paraganglioma and gastric stromal sarcoma, OMIM:606864; Carney-Stratakis syndrome, MONDO:0011740
Sarcoma susceptibility v1.51 SDHC Arina Puzriakova Phenotypes for gene: SDHC were changed from to Paraganglioma and gastric stromal sarcoma, OMIM:606864; Carney-Stratakis syndrome, MONDO:0011740
Sarcoma susceptibility v1.50 SDHB Arina Puzriakova Phenotypes for gene: SDHB were changed from to Paraganglioma and gastric stromal sarcoma, OMIM:606864; Carney-Stratakis syndrome, MONDO:0011740
Sarcoma susceptibility v1.49 RB1 Arina Puzriakova Phenotypes for gene: RB1 were changed from Retinoblastoma, 180200 to Retinoblastoma, OMIM:180200; Osteosarcoma, somatic, OMIM:259500
Sarcoma susceptibility v1.48 PTEN Arina Puzriakova Phenotypes for gene: PTEN were changed from Paraganglioma to Leiomyosarcoma, MONDO:0005058
Sarcoma susceptibility v1.47 PTEN Arina Puzriakova Mode of inheritance for gene: PTEN was changed from to BIALLELIC, autosomal or pseudoautosomal
Sarcoma susceptibility v1.46 PTEN Arina Puzriakova Publications for gene: PTEN were set to
Sarcoma susceptibility v1.45 PMS2 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Colorectal cancer, hereditary nonpolyposis, type 4, OMIM:614337
Sarcoma susceptibility v1.45 PMS2 Arina Puzriakova Phenotypes for gene: PMS2 were changed from Mismatch repair cancer syndrome, 276300 to Mismatch repair cancer syndrome 4, OMIM:619101; Rhabdomyosarcoma (disease), MONDO:0005212
Sarcoma susceptibility v1.44 NBN Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Aplastic anemia, OMIM:609135 and Leukemia, acute lymphoblastic, OMIM:613065
Sarcoma susceptibility v1.44 NBN Arina Puzriakova Phenotypes for gene: NBN were changed from Nijmegen breakage syndrome, 251260 to Nijmegen breakage syndrome, OMIM:251260; Rhabdomyosarcoma (disease), MONDO:0005212
Sarcoma susceptibility v1.43 MSH6 Arina Puzriakova Phenotypes for gene: MSH6 were changed from Mismatch repair cancer syndrome, 276300 to Mismatch repair cancer syndrome 3, OMIM:619097; Rhabdomyosarcoma (disease), MONDO:0005212
Sarcoma susceptibility v1.42 MSH2 Arina Puzriakova Phenotypes for gene: MSH2 were changed from Mismatch repair cancer syndrome, 276300 to Mismatch repair cancer syndrome 2, OMIM:619096; Rhabdomyosarcoma (disease), MONDO:0005212
Sarcoma susceptibility v1.41 MLH1 Arina Puzriakova Phenotypes for gene: MLH1 were changed from Mismatch repair cancer syndrome, 276300 to Mismatch repair cancer syndrome 1, OMIM:276300; Rhabdomyosarcoma (disease), MONDO:0005212
Sarcoma susceptibility v1.40 KIT Arina Puzriakova Phenotypes for gene: KIT were changed from to Gastrointestinal stromal tumor, familial, OMIM:606764; Gastrointestinal stromal tumor, MONDO:0011719
Sarcoma susceptibility v1.39 KIT Arina Puzriakova Mode of pathogenicity for gene: KIT 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
Sarcoma susceptibility v1.38 HRAS Arina Puzriakova Phenotypes for gene: HRAS were changed from Costello syndrome, 218040 to Costello syndrome, OMIM:218040; Rhabdomyosarcoma (disease), MONDO:0005212
Sarcoma susceptibility v1.37 FH Arina Puzriakova Phenotypes for gene: FH were changed from Leiomyomatosis and renal cell cancer 150800 to Leiomyomatosis and renal cell cancer, OMIM:150800; Hereditary leiomyomatosis and renal cell cancer, MONDO:0007888; Leiomyosarcoma, MONDO:0005058
Sarcoma susceptibility v1.36 ERCC2 Arina Puzriakova Mode of inheritance for gene: ERCC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Sarcoma susceptibility v1.35 ATM Arina Puzriakova Publications for gene: ATM were set to 27498913; 30567006
Sarcoma susceptibility v1.34 ATM Arina Puzriakova Publications for gene: ATM were set to 27498913
Sarcoma susceptibility v1.33 APC Arina Puzriakova Publications for gene: APC were set to
Sarcoma susceptibility v1.32 ERCC2 Arina Puzriakova Phenotypes for gene: ERCC2 were changed from to Sarcoma, MONDO:0005089
Sarcoma susceptibility v1.31 CDKN1C Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with IMAGE syndrome, OMIM:614732
Sarcoma susceptibility v1.31 CDKN1C Arina Puzriakova Phenotypes for gene: CDKN1C were changed from Beckwith-Wiedemann syndrome, 130650 to Beckwith-Wiedemann syndrome, OMIM:130650; Rhabdomyosarcoma (disease), MONDO:0005212
Sarcoma susceptibility v1.30 BUB1B Arina Puzriakova Phenotypes for gene: BUB1B were changed from Mosaic variegated aneuploidy syndrome 1, 257300 to Mosaic variegated aneuploidy syndrome 1, OMIM:257300; Rhabdomyosarcoma (disease), MONDO:0005212
Sarcoma susceptibility v1.29 BRCA2 Arina Puzriakova Mode of inheritance for gene: BRCA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma susceptibility v1.28 BRCA2 Arina Puzriakova Phenotypes for gene: BRCA2 were changed from to Sarcoma, MONDO:0005089
Sarcoma susceptibility v1.27 BLM Arina Puzriakova Mode of inheritance for gene: BLM was changed from to BIALLELIC, autosomal or pseudoautosomal
Sarcoma susceptibility v1.26 BLM Arina Puzriakova Phenotypes for gene: BLM were changed from Bloom to Bloom syndrome, OMIM:210900; Osteosarcoma (disease), MONDO:0009807
Sarcoma susceptibility v1.25 ATR Arina Puzriakova Mode of inheritance for gene: ATR was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma susceptibility v1.24 ATM Arina Puzriakova Mode of inheritance for gene: ATM was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma susceptibility v1.23 ATR Arina Puzriakova Phenotypes for gene: ATR were changed from to Sarcoma, MONDO:0005089
Sarcoma susceptibility v1.22 ATM Arina Puzriakova Phenotypes for gene: ATM were changed from to Sarcoma, MONDO:0005089
Sarcoma susceptibility v1.21 APC Arina Puzriakova Mode of inheritance for gene: APC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma susceptibility v1.20 APC Arina Puzriakova Phenotypes for gene: APC were changed from Gardner / fibromatosis; Gardner syndrome to Gardner syndrome, OMIM:175100; Sarcoma, MONDO:0005089
Sarcoma susceptibility v1.19 TP53 Arina Puzriakova Phenotypes for gene: TP53 were changed from Sarcoma; Li-Fraumeni syndrome, 151623 to Li-Fraumeni syndrome, OMIM:151623; Sarcoma, MONDO:0005089
Sarcoma susceptibility v1.18 T Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Neural tube defects, susceptibility to}, OMIM:182940; Sacral agenesis with vertebral anomalies, OMIM:615709
Sarcoma susceptibility v1.18 T Arina Puzriakova Phenotypes for gene: T were changed from Familial Chordoma; Chordoma to Susceptibility to Chordoma; Chordoma (disease), MONDO:0008978
Sarcoma susceptibility v1.17 SQSTM1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, OMIM:616437; Myopathy, distal, with rimmed vacuoles, OMIM:617158; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, OMIM:617145
Sarcoma susceptibility v1.17 SQSTM1 Arina Puzriakova Phenotypes for gene: SQSTM1 were changed from Osteosarcoma; Paget disease of bone 3 167250 to Paget disease of bone 3, OMIM:167250; Paget disease of bone 3, MONDO:0008176; Osteosarcoma (disease), MONDO:0009807
Sarcoma susceptibility v1.16 RECQL4 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Baller-Gerold syndrome, OMIM:218600
Sarcoma susceptibility v1.16 RECQL4 Arina Puzriakova Phenotypes for gene: RECQL4 were changed from Rothmund-Thomson, Beller-Gerold and RAPADALINO syndromes; Osteosarcoma to RAPADILINO syndrome, OMIM:266280; Rothmund-Thomson syndrome, type 2, OMIM:268400; Osteosarcoma (disease), MONDO:0009807
Sarcoma susceptibility v1.15 NF1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Leukemia, juvenile myelomonocytic, OMIM:607785; Neurofibromatosis-Noonan syndrome, OMIM:601321; Neurofibromatosis, familial spinal, OMIM:162210; Watson syndrome, OMIM:193520
Sarcoma susceptibility v1.15 NF1 Arina Puzriakova Phenotypes for gene: NF1 were changed from Neurofibromatosis, type 1 162200 to Neurofibromatosis, type 1, OMIM:162200; Neurofibromatosis type 1, MONDO:0018975
Sarcoma susceptibility v1.14 MTAP Arina Puzriakova Phenotypes for gene: MTAP were changed from Diaphyseal medullary stenosis with malignant fibrous histiocytoma 112250; UPS of bone to Diaphyseal medullary stenosis with malignant fibrous histiocytoma, OMIM:112250; Diaphyseal medullary stenosis-bone malignancy syndrome, MONDO:0007205
Sarcoma susceptibility v1.13 EXT2 Arina Puzriakova Added comment: Comment on phenotypes: Biallelic variants in this gene are associated with Seizures, scoliosis, and macrocephaly syndrome (MIM# 616682)
Sarcoma susceptibility v1.13 EXT2 Arina Puzriakova Phenotypes for gene: EXT2 were changed from Exostoses, multiple, type 2 to Exostoses, multiple, type 2, OMIM:133701; Exostoses, multiple, type 2, MONDO:0007586
Sarcoma susceptibility v1.12 EXT1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Exostoses, multiple, type 1 (MIM# 133700)
Sarcoma susceptibility v1.12 EXT1 Arina Puzriakova Phenotypes for gene: EXT1 were changed from Chondrosarcoma 215300 to Chondrosarcoma, OMIM:215300; Chondrosarcoma (disease), MONDO:0008977
Sarcoma susceptibility v1.11 EXT2 Arina Puzriakova Source: Expert Review Amber was removed from gene: EXT2
Sarcoma susceptibility v1.8 NF1 Arina Puzriakova Source: Expert Review Amber was removed from gene: NF1
Sarcoma susceptibility v1.6 PDGFRA Arina Puzriakova Source: Expert Review Green was removed from gene: PDGFRA
Sarcoma susceptibility v1.5 DICER1 Arina Puzriakova Phenotypes for gene: DICER1 were changed from Pleuropulmonary blastoma, 601200; Rhabdomyosarcoma, embryonal, 2, 180295 to Pleuropulmonary blastoma, OMIM:601200; Pleuropulmonary blastoma, MONDO:0011014; Rhabdomyosarcoma, embryonal, 2, OMIM:180295; Embryonal rhabdomyosarcoma (disease), MONDO:0009993
Sarcoma susceptibility v1.3 Rebecca Foulger Panel version has been signed off
Sarcoma susceptibility v1.1 Ellen McDonagh Panel version has been signed off
Sarcoma susceptibility v1.0 Ellen McDonagh promoted panel to version 1.0
Sarcoma susceptibility v0.11 Ellen McDonagh Panel types changed to GMS Cancer Germline Virtual; GMS signed-off
Sarcoma susceptibility v0.8 EXT1 Rebecca Foulger Classified gene: EXT1 as Green List (high evidence)
Sarcoma susceptibility v0.8 EXT1 Rebecca Foulger Gene: ext1 has been classified as Green List (High Evidence).
Sarcoma susceptibility v0.7 EXT1 Rebecca Foulger Source NHS GMS was added to EXT1.
Rating Changed from No List (delete) to Red List (low evidence)
Sarcoma susceptibility v0.6 EXT1 Rebecca Foulger All sources for gene: EXT1 were removed
Sarcoma susceptibility v0.5 SMARCB1 Rebecca Foulger Source NHS GMS was added to SMARCB1.
Sarcoma susceptibility v0.5 SMARCA4 Rebecca Foulger Source NHS GMS was added to SMARCA4.
Sarcoma susceptibility v0.5 PTEN Rebecca Foulger Source NHS GMS was added to PTEN.
Sarcoma susceptibility v0.5 ERCC2 Rebecca Foulger Source NHS GMS was added to ERCC2.
Sarcoma susceptibility v0.5 BRCA2 Rebecca Foulger Source NHS GMS was added to BRCA2.
Sarcoma susceptibility v0.5 BLM Rebecca Foulger Source NHS GMS was added to BLM.
Sarcoma susceptibility v0.5 ATR Rebecca Foulger Source NHS GMS was added to ATR.
Sarcoma susceptibility v0.5 ATM Rebecca Foulger Source NHS GMS was added to ATM.
Sarcoma susceptibility v0.5 APC Rebecca Foulger Source NHS GMS was added to APC.
Sarcoma susceptibility v0.5 WT1 Rebecca Foulger Source NHS GMS was added to WT1.
Sarcoma susceptibility v0.5 TNFRSF11A Rebecca Foulger Source NHS GMS was added to TNFRSF11A.
Sarcoma susceptibility v0.5 PAX7 Rebecca Foulger Source NHS GMS was added to PAX7.
Sarcoma susceptibility v0.5 PAX3 Rebecca Foulger Source NHS GMS was added to PAX3.
Sarcoma susceptibility v0.5 KRAS Rebecca Foulger Source NHS GMS was added to KRAS.
Sarcoma susceptibility v0.5 FOXO1 Rebecca Foulger Source NHS GMS was added to FOXO1.
Sarcoma susceptibility v0.5 DICER1 Rebecca Foulger Source NHS GMS was added to DICER1.
Sarcoma susceptibility v0.5 CREBBP Rebecca Foulger Source NHS GMS was added to CREBBP.
Sarcoma susceptibility v0.5 WRN Rebecca Foulger Source NHS GMS was added to WRN.
Sarcoma susceptibility v0.5 SDHD Rebecca Foulger Source NHS GMS was added to SDHD.
Sarcoma susceptibility v0.5 SDHC Rebecca Foulger Source NHS GMS was added to SDHC.
Sarcoma susceptibility v0.5 SDHB Rebecca Foulger Source NHS GMS was added to SDHB.
Sarcoma susceptibility v0.5 SDHA Rebecca Foulger Source NHS GMS was added to SDHA.
Sarcoma susceptibility v0.5 RB1 Rebecca Foulger Source NHS GMS was added to RB1.
Sarcoma susceptibility v0.5 PMS2 Rebecca Foulger Source NHS GMS was added to PMS2.
Sarcoma susceptibility v0.5 NBN Rebecca Foulger Source NHS GMS was added to NBN.
Sarcoma susceptibility v0.5 MSH6 Rebecca Foulger Source NHS GMS was added to MSH6.
Sarcoma susceptibility v0.5 MSH2 Rebecca Foulger Source NHS GMS was added to MSH2.
Sarcoma susceptibility v0.5 MLH1 Rebecca Foulger Source NHS GMS was added to MLH1.
Sarcoma susceptibility v0.5 KIT Rebecca Foulger Source NHS GMS was added to KIT.
Sarcoma susceptibility v0.5 HRAS Rebecca Foulger Source NHS GMS was added to HRAS.
Sarcoma susceptibility v0.5 FH Rebecca Foulger Source NHS GMS was added to FH.
Sarcoma susceptibility v0.5 CDKN1C Rebecca Foulger Source NHS GMS was added to CDKN1C.
Sarcoma susceptibility v0.5 BUB1B Rebecca Foulger Source NHS GMS was added to BUB1B.
Sarcoma susceptibility v0.3 Rebecca Foulger Panel status changed from internal to public
Sarcoma susceptibility v0.2 ERCC2 Rebecca Foulger reviewed gene: ERCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Sarcoma susceptibility v0.2 ATR Rebecca Foulger reviewed gene: ATR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Sarcoma susceptibility v0.2 ATM Rebecca Foulger reviewed gene: ATM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Sarcoma susceptibility v0.2 BRCA2 Rebecca Foulger reviewed gene: BRCA2: Rating: AMBER; Mode of pathogenicity: ; Publications: 17224268; Phenotypes: ; Mode of inheritance:
Sarcoma susceptibility v0.2 SMARCB1 Rebecca Foulger reviewed gene: SMARCB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Sarcoma susceptibility v0.2 SMARCA4 Rebecca Foulger reviewed gene: SMARCA4: Rating: AMBER; Mode of pathogenicity: ; Publications: 31190001; Phenotypes: ; Mode of inheritance:
Sarcoma susceptibility v0.2 BLM Rebecca Foulger reviewed gene: BLM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Sarcoma susceptibility v0.2 PTEN Rebecca Foulger reviewed gene: PTEN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Sarcoma susceptibility v0.2 APC Rebecca Foulger reviewed gene: APC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Gardner syndrome; Mode of inheritance:
Sarcoma susceptibility v0.2 NF1 Rebecca Foulger reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Sarcoma susceptibility v0.2 EXT2 Rebecca Foulger reviewed gene: EXT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Sarcoma susceptibility v0.2 EXT1 Rebecca Foulger reviewed gene: EXT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Sarcoma susceptibility v0.2 TP53 Rebecca Foulger reviewed gene: TP53: Rating: GREEN; Mode of pathogenicity: ; Publications: 28338660, 27050224; Phenotypes: Li-Fraumeni; Mode of inheritance:
Sarcoma susceptibility v0.2 T Rebecca Foulger reviewed gene: T: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Sarcoma susceptibility v0.2 SQSTM1 Rebecca Foulger reviewed gene: SQSTM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Sarcoma susceptibility v0.2 RECQL4 Rebecca Foulger reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 28338660; Phenotypes: ; Mode of inheritance:
Sarcoma susceptibility v0.2 PDGFRA Rebecca Foulger reviewed gene: PDGFRA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Sarcoma susceptibility v0.2 MTAP Rebecca Foulger reviewed gene: MTAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Sarcoma susceptibility v0.1 Rebecca Foulger Panel types changed to GMS Cancer Germline Virtual
Sarcoma susceptibility v0.0 ERCC2 Rebecca Foulger gene: ERCC2 was added
gene: ERCC2 was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: ERCC2 was set to
Publications for gene: ERCC2 were set to 27498913
Sarcoma susceptibility v0.0 ATR Rebecca Foulger gene: ATR was added
gene: ATR was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: ATR was set to
Publications for gene: ATR were set to 27498913
Sarcoma susceptibility v0.0 ATM Rebecca Foulger gene: ATM was added
gene: ATM was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: ATM was set to
Publications for gene: ATM were set to 27498913
Sarcoma susceptibility v0.0 BRCA2 Rebecca Foulger gene: BRCA2 was added
gene: BRCA2 was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: BRCA2 was set to
Publications for gene: BRCA2 were set to 17224268; 27498913
Sarcoma susceptibility v0.0 SMARCB1 Rebecca Foulger gene: SMARCB1 was added
gene: SMARCB1 was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: SMARCB1 was set to
Phenotypes for gene: SMARCB1 were set to Rhabdoid tu, schwannomatosis
Sarcoma susceptibility v0.0 SMARCA4 Rebecca Foulger gene: SMARCA4 was added
gene: SMARCA4 was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: SMARCA4 was set to
Publications for gene: SMARCA4 were set to 31190001
Phenotypes for gene: SMARCA4 were set to undifferentiated uterine sarcoma
Sarcoma susceptibility v0.0 BLM Rebecca Foulger gene: BLM was added
gene: BLM was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: BLM was set to
Publications for gene: BLM were set to 28338660
Phenotypes for gene: BLM were set to Bloom
Sarcoma susceptibility v0.0 PTEN Rebecca Foulger gene: PTEN was added
gene: PTEN was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: PTEN was set to
Phenotypes for gene: PTEN were set to Paraganglioma
Sarcoma susceptibility v0.0 APC Rebecca Foulger gene: APC was added
gene: APC was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: APC was set to
Phenotypes for gene: APC were set to Gardner / fibromatosis; Gardner syndrome
Sarcoma susceptibility v0.0 WT1 Rebecca Foulger gene: WT1 was added
gene: WT1 was added to Sarcoma susceptibility. Sources: 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 susceptibility v0.0 TNFRSF11A Rebecca Foulger gene: TNFRSF11A was added
gene: TNFRSF11A was added to Sarcoma susceptibility. Sources: Expert Review Red
Mode of inheritance for gene: TNFRSF11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TNFRSF11A were set to 15758393; 12673693; 11351498
Phenotypes for gene: TNFRSF11A were set to Paget disease of bone; Polyostotic osteolytic dysplasia (hereditary expansile); Osteosarcoma
Sarcoma susceptibility v0.0 PAX7 Rebecca Foulger gene: PAX7 was added
gene: PAX7 was added to Sarcoma susceptibility. Sources: 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 susceptibility v0.0 PAX3 Rebecca Foulger gene: PAX3 was added
gene: PAX3 was added to Sarcoma susceptibility. Sources: 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 susceptibility v0.0 KRAS Rebecca Foulger gene: KRAS was added
gene: KRAS was added to Sarcoma susceptibility. Sources: 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 susceptibility v0.0 FOXO1 Rebecca Foulger gene: FOXO1 was added
gene: FOXO1 was added to Sarcoma susceptibility. Sources: 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 susceptibility v0.0 DICER1 Rebecca Foulger gene: DICER1 was added
gene: DICER1 was added to Sarcoma susceptibility. Sources: Expert Review Red
Mode of inheritance for gene: DICER1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DICER1 were set to 30989777
Phenotypes for gene: DICER1 were set to Pleuropulmonary blastoma, 601200; Rhabdomyosarcoma, embryonal, 2, 180295
Sarcoma susceptibility v0.0 CREBBP Rebecca Foulger gene: CREBBP was added
gene: CREBBP was added to Sarcoma susceptibility. Sources: 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 susceptibility v0.0 WRN Rebecca Foulger gene: WRN was added
gene: WRN was added to Sarcoma susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WRN were set to 28338660
Phenotypes for gene: WRN were set to Werner syndrome 277700
Sarcoma susceptibility v0.0 SDHD Rebecca Foulger gene: SDHD was added
gene: SDHD was added to Sarcoma susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: SDHD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma susceptibility v0.0 SDHC Rebecca Foulger gene: SDHC was added
gene: SDHC was added to Sarcoma susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: SDHC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma susceptibility v0.0 SDHB Rebecca Foulger gene: SDHB was added
gene: SDHB was added to Sarcoma susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: SDHB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma susceptibility v0.0 SDHA Rebecca Foulger gene: SDHA was added
gene: SDHA was added to Sarcoma susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: SDHA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma susceptibility v0.0 RB1 Rebecca Foulger gene: RB1 was added
gene: RB1 was added to Sarcoma susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: RB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RB1 were set to 28338660
Phenotypes for gene: RB1 were set to Retinoblastoma, 180200
Sarcoma susceptibility v0.0 PMS2 Rebecca Foulger gene: PMS2 was added
gene: PMS2 was added to Sarcoma susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: PMS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMS2 were set to 27050224
Phenotypes for gene: PMS2 were set to Mismatch repair cancer syndrome, 276300
Sarcoma susceptibility v0.0 NF1 Rebecca Foulger gene: NF1 was added
gene: NF1 was added to Sarcoma susceptibility. Sources: NHS GMS,Expert Review Green
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 susceptibility v0.0 NBN Rebecca Foulger gene: NBN was added
gene: NBN was added to Sarcoma susceptibility. Sources: Expert Review Amber
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 susceptibility v0.0 MSH6 Rebecca Foulger gene: MSH6 was added
gene: MSH6 was added to Sarcoma susceptibility. Sources: Expert Review Amber
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 susceptibility v0.0 MSH2 Rebecca Foulger gene: MSH2 was added
gene: MSH2 was added to Sarcoma susceptibility. Sources: Expert Review Amber
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 susceptibility v0.0 MLH1 Rebecca Foulger gene: MLH1 was added
gene: MLH1 was added to Sarcoma susceptibility. Sources: Expert Review Amber
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 susceptibility v0.0 KIT Rebecca Foulger gene: KIT was added
gene: KIT was added to Sarcoma susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma susceptibility v0.0 HRAS Rebecca Foulger gene: HRAS was added
gene: HRAS was added to Sarcoma susceptibility. Sources: Expert Review Amber
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 susceptibility v0.0 FH Rebecca Foulger gene: FH was added
gene: FH was added to Sarcoma susceptibility. Sources: Expert Review Amber
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
Sarcoma susceptibility v0.0 EXT2 Rebecca Foulger gene: EXT2 was added
gene: EXT2 was added to Sarcoma susceptibility. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: EXT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EXT2 were set to 27636706; 7726168; 29529714; 23770606
Phenotypes for gene: EXT2 were set to Exostoses, multiple, type 2
Sarcoma susceptibility v0.0 EXT1 Rebecca Foulger gene: EXT1 was added
gene: EXT1 was added to Sarcoma susceptibility. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EXT1 were set to 23770606; 29529714; 10441575
Phenotypes for gene: EXT1 were set to Chondrosarcoma 215300
Sarcoma susceptibility v0.0 CDKN1C Rebecca Foulger gene: CDKN1C was added
gene: CDKN1C was added to Sarcoma susceptibility. Sources: Expert Review Amber
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 susceptibility v0.0 BUB1B Rebecca Foulger gene: BUB1B was added
gene: BUB1B was added to Sarcoma susceptibility. Sources: Expert Review Amber
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 susceptibility v0.0 TP53 Rebecca Foulger gene: TP53 was added
gene: TP53 was added to Sarcoma susceptibility. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TP53 were set to 27050224; 28338660
Phenotypes for gene: TP53 were set to Sarcoma; Li-Fraumeni syndrome, 151623
Sarcoma susceptibility v0.0 T Rebecca Foulger gene: T was added
gene: T was added to Sarcoma susceptibility. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: T was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: T were set to 23064415; 19801981
Phenotypes for gene: T were set to Familial Chordoma; Chordoma
Sarcoma susceptibility v0.0 SQSTM1 Rebecca Foulger gene: SQSTM1 was added
gene: SQSTM1 was added to Sarcoma susceptibility. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SQSTM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SQSTM1 were set to 21437228; 11473345; 9345096; 12374763
Phenotypes for gene: SQSTM1 were set to Osteosarcoma; Paget disease of bone 3 167250
Sarcoma susceptibility v0.0 RECQL4 Rebecca Foulger gene: RECQL4 was added
gene: RECQL4 was added to Sarcoma susceptibility. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RECQL4 were set to 12734318; 17264332; 12612652; 28338660
Phenotypes for gene: RECQL4 were set to Rothmund-Thomson, Beller-Gerold and RAPADALINO syndromes; Osteosarcoma
Sarcoma susceptibility v0.0 PDGFRA Rebecca Foulger gene: PDGFRA was added
gene: PDGFRA was added to Sarcoma susceptibility. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: PDGFRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PDGFRA were set to 26297068; 14699510; 17566086; 25975287
Phenotypes for gene: PDGFRA were set to Gastrointestinal stromal tumor, somatic 606764; Familial GIST
Sarcoma susceptibility v0.0 MTAP Rebecca Foulger gene: MTAP was added
gene: MTAP was added to Sarcoma susceptibility. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: MTAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MTAP were set to 19197386; 22464254
Phenotypes for gene: MTAP were set to Diaphyseal medullary stenosis with malignant fibrous histiocytoma 112250; UPS of bone
Sarcoma susceptibility v0.0 Rebecca Foulger Added panel Sarcoma susceptibility