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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