Activity

Filter

Cancel
Date Panel Item Activity
51 actions
Sarcoma of possible germline origin v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Sarcoma of possible germline origin v0.9 Achchuthan Shanmugasundram Panel status changed from internal to public
Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Sarcoma of possible germline origin v0.8 Achchuthan Shanmugasundram Panel status changed from public to internal
Sarcoma of possible germline origin v0.7 Achchuthan Shanmugasundram Panel status changed from internal to public
Sarcoma of possible germline origin v0.6 Arina Puzriakova Panel status changed from public to internal
Sarcoma of possible germline origin v0.5 Arina Puzriakova Panel status changed from internal to public
Sarcoma of possible germline origin v0.4 WRN Achchuthan Shanmugasundram commented on gene: WRN: WRN has been added to the panel for the clinical indication 'R457 Sarcoma of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Sarcoma of possible germline origin v0.4 TP53 Achchuthan Shanmugasundram commented on gene: TP53: TP53 has been added to the panel for the clinical indication 'R457 Sarcoma of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Sarcoma of possible germline origin v0.4 T Achchuthan Shanmugasundram commented on gene: T: T has been added to the panel for the clinical indication 'R457 Sarcoma of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Sarcoma of possible germline origin v0.4 RECQL4 Achchuthan Shanmugasundram commented on gene: RECQL4: RECQL4 has been added to the panel for the clinical indication 'R457 Sarcoma of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Sarcoma of possible germline origin v0.4 RB1 Achchuthan Shanmugasundram commented on gene: RB1: RB1 has been added to the panel for the clinical indication 'R457 Sarcoma of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Sarcoma of possible germline origin v0.4 PTPN11 Achchuthan Shanmugasundram commented on gene: PTPN11: PTPN11 has been added to the panel for the clinical indication 'R457 Sarcoma of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Sarcoma of possible germline origin v0.4 NF1 Achchuthan Shanmugasundram commented on gene: NF1: NF1 has been added to the panel for the clinical indication 'R457 Sarcoma of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Sarcoma of possible germline origin v0.4 NBN Achchuthan Shanmugasundram commented on gene: NBN: NBN has been added to the panel for the clinical indication 'R457 Sarcoma of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Sarcoma of possible germline origin v0.4 KRAS Achchuthan Shanmugasundram commented on gene: KRAS: KRAS has been added to the panel for the clinical indication 'R457 Sarcoma of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Sarcoma of possible germline origin v0.4 HRAS Achchuthan Shanmugasundram commented on gene: HRAS: HRAS has been added to the panel for the clinical indication 'R457 Sarcoma of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Sarcoma of possible germline origin v0.4 DICER1 Achchuthan Shanmugasundram commented on gene: DICER1: DICER1 has been added to the panel for the clinical indication 'R457 Sarcoma of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Sarcoma of possible germline origin v0.4 CBL Achchuthan Shanmugasundram commented on gene: CBL: CBL has been added to the panel for the clinical indication 'R457 Sarcoma of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Sarcoma of possible germline origin v0.4 BUB1B Achchuthan Shanmugasundram commented on gene: BUB1B: BUB1B has been added to the panel for the clinical indication 'R457 Sarcoma of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Sarcoma of possible germline origin v0.2 T Achchuthan Shanmugasundram changed review comment from: It is only duplications in this gene are relevant for this panel.; to: Duplications in this gene are only relevant for this panel. Hence, 'gene-duplication' tag has been added.
Sarcoma of possible germline origin v0.2 T Achchuthan Shanmugasundram Tag gene-duplication tag was added to gene: T.
Sarcoma of possible germline origin v0.2 T Achchuthan Shanmugasundram commented on gene: T: It is only duplications in this gene are relevant for this panel.
Sarcoma of possible germline origin v0.2 T Achchuthan Shanmugasundram commented on gene: T: Added new-gene-name tag, new approved HGNC gene symbol is TBXT.
Sarcoma of possible germline origin v0.2 T Achchuthan Shanmugasundram reviewed gene: T: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma of possible germline origin v0.2 T Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: T.
Sarcoma of possible germline origin v0.2 TP53 Achchuthan Shanmugasundram reviewed gene: TP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: {Colorectal cancer}, OMIM:114500, basal cell carcinoma, susceptibility to, 7, MONDO:0013876, adrenocortical carcinoma, hereditary, MONDO:0008734, {Glioma susceptibility 1}, OMIM:137800, nasopharyngeal carcinoma, susceptibility to, 1, MONDO:0011775, Li-Fraumeni syndrome, OMIM:151623, Li-Fraumeni syndrome, MONDO:0018875, {Basal cell carcinoma 7}, OMIM:614740, choroid plexus papilloma, MONDO:0009837, {Adrenocortical carcinoma, pediatric}, OMIM:202300, {Choroid plexus papilloma}, OMIM:260500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma of possible germline origin v0.2 RECQL4 Achchuthan Shanmugasundram reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Rothmund-Thomson syndrome, type 2, OMIM:268400, Rothmund-Thomson syndrome type 2, MONDO:0016369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Sarcoma of possible germline origin v0.2 WRN Achchuthan Shanmugasundram reviewed gene: WRN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Werner syndrome, MONDO:0010196, Werner syndrome, OMIM:277700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Sarcoma of possible germline origin v0.2 RB1 Achchuthan Shanmugasundram reviewed gene: RB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinoblastoma, OMIM:180200, Retinoblastoma, trilateral, OMIM:180200, hereditary retinoblastoma, MONDO:0018160; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma of possible germline origin v0.2 PTPN11 Achchuthan Shanmugasundram reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Noonan syndrome 1, OMIM:163950, Noonan syndrome 1, MONDO:0008104; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma of possible germline origin v0.2 NF1 Achchuthan Shanmugasundram reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: neurofibromatosis type 1, MONDO:0018975, Neurofibromatosis, type 1, OMIM:162200, neurofibromatosis-Noonan syndrome, MONDO:0011035, Neurofibromatosis, familial spinal, OMIM:162210, Leukemia, juvenile myelomonocytic, OMIM:607785, Neurofibromatosis-Noonan syndrome, OMIM:601321; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma of possible germline origin v0.2 NBN Achchuthan Shanmugasundram reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nijmegen breakage syndrome, OMIM:251260, Nijmegen breakage syndrome, MONDO:0009623; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Sarcoma of possible germline origin v0.2 KRAS Achchuthan Shanmugasundram reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Noonan syndrome 3, OMIM:609942, cardiofaciocutaneous syndrome 2, MONDO:0014112, Noonan syndrome 3, MONDO:0012371, Cardiofaciocutaneous syndrome 2, OMIM:615278, RAS-associated autoimmune leukoproliferative disorder, OMIM:614470; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma of possible germline origin v0.2 HRAS Achchuthan Shanmugasundram reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Costello syndrome, MONDO:0009026, Costello syndrome, OMIM:218040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma of possible germline origin v0.2 DICER1 Achchuthan Shanmugasundram reviewed gene: DICER1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pleuropulmonary blastoma, OMIM:601200, Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, OMIM:138800, Rhabdomyosarcoma, embryonal, 2, OMIM:180295, rhabdomyosarcoma, embryonal, 2, MONDO:0859046, DICER1-related tumor predisposition, MONDO:0100216; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sarcoma of possible germline origin v0.2 CBL Achchuthan Shanmugasundram reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, OMIM:613563, CBL-related disorder, MONDO:0013308, ?Juvenile myelomonocytic leukemia, OMIM:607785; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma of possible germline origin v0.2 BUB1B Achchuthan Shanmugasundram reviewed gene: BUB1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: mosaic variegated aneuploidy syndrome 1, MONDO:0009759, Mosaic variegated aneuploidy syndrome 1, OMIM:257300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Sarcoma of possible germline origin v0.1 TP53 Achchuthan Shanmugasundram gene: TP53 was added
gene: TP53 was added to Sarcoma of possible germline origin. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TP53 were set to {Colorectal cancer}, OMIM:114500; basal cell carcinoma, susceptibility to, 7, MONDO:0013876; adrenocortical carcinoma, hereditary, MONDO:0008734; {Glioma susceptibility 1}, OMIM:137800; nasopharyngeal carcinoma, susceptibility to, 1, MONDO:0011775; Li-Fraumeni syndrome, OMIM:151623; Li-Fraumeni syndrome, MONDO:0018875; {Basal cell carcinoma 7}, OMIM:614740; choroid plexus papilloma, MONDO:0009837; {Adrenocortical carcinoma, pediatric}, OMIM:202300; {Choroid plexus papilloma}, OMIM:260500
Sarcoma of possible germline origin v0.1 T Achchuthan Shanmugasundram gene: T was added
gene: T was added to Sarcoma of possible germline origin. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: T was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma of possible germline origin v0.1 RECQL4 Achchuthan Shanmugasundram gene: RECQL4 was added
gene: RECQL4 was added to Sarcoma of possible germline origin. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome, type 2, OMIM:268400; Rothmund-Thomson syndrome type 2, MONDO:0016369
Sarcoma of possible germline origin v0.1 WRN Achchuthan Shanmugasundram gene: WRN was added
gene: WRN was added to Sarcoma of possible germline origin. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WRN were set to Werner syndrome, MONDO:0010196; Werner syndrome, OMIM:277700
Sarcoma of possible germline origin v0.1 RB1 Achchuthan Shanmugasundram gene: RB1 was added
gene: RB1 was added to Sarcoma of possible germline origin. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: RB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RB1 were set to Retinoblastoma, OMIM:180200; Retinoblastoma, trilateral, OMIM:180200; hereditary retinoblastoma, MONDO:0018160
Sarcoma of possible germline origin v0.1 PTPN11 Achchuthan Shanmugasundram gene: PTPN11 was added
gene: PTPN11 was added to Sarcoma of possible germline origin. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTPN11 were set to Noonan syndrome 1, OMIM:163950; Noonan syndrome 1, MONDO:0008104
Sarcoma of possible germline origin v0.1 NF1 Achchuthan Shanmugasundram gene: NF1 was added
gene: NF1 was added to Sarcoma of possible germline origin. 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, MONDO:0018975; Neurofibromatosis, type 1, OMIM:162200; neurofibromatosis-Noonan syndrome, MONDO:0011035; Neurofibromatosis, familial spinal, OMIM:162210; Leukemia, juvenile myelomonocytic, OMIM:607785; Neurofibromatosis-Noonan syndrome, OMIM:601321
Sarcoma of possible germline origin v0.1 NBN Achchuthan Shanmugasundram gene: NBN was added
gene: NBN was added to Sarcoma of possible germline origin. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NBN were set to Nijmegen breakage syndrome, OMIM:251260; Nijmegen breakage syndrome, MONDO:0009623
Sarcoma of possible germline origin v0.1 KRAS Achchuthan Shanmugasundram gene: KRAS was added
gene: KRAS was added to Sarcoma of possible germline origin. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KRAS were set to Noonan syndrome 3, OMIM:609942; cardiofaciocutaneous syndrome 2, MONDO:0014112; Noonan syndrome 3, MONDO:0012371; Cardiofaciocutaneous syndrome 2, OMIM:615278; RAS-associated autoimmune leukoproliferative disorder, OMIM:614470
Sarcoma of possible germline origin v0.1 HRAS Achchuthan Shanmugasundram gene: HRAS was added
gene: HRAS was added to Sarcoma of possible germline origin. Sources: NHS GMS,Expert Review Green
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, MONDO:0009026; Costello syndrome, OMIM:218040
Sarcoma of possible germline origin v0.1 DICER1 Achchuthan Shanmugasundram gene: DICER1 was added
gene: DICER1 was added to Sarcoma of possible germline origin. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: DICER1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DICER1 were set to Pleuropulmonary blastoma, OMIM:601200; Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, OMIM:138800; Rhabdomyosarcoma, embryonal, 2, OMIM:180295; rhabdomyosarcoma, embryonal, 2, MONDO:0859046; DICER1-related tumor predisposition, MONDO:0100216
Sarcoma of possible germline origin v0.1 CBL Achchuthan Shanmugasundram gene: CBL was added
gene: CBL was added to Sarcoma of possible germline origin. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CBL were set to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, OMIM:613563; CBL-related disorder, MONDO:0013308; ?Juvenile myelomonocytic leukemia, OMIM:607785
Sarcoma of possible germline origin v0.1 BUB1B Achchuthan Shanmugasundram gene: BUB1B was added
gene: BUB1B was added to Sarcoma of possible germline origin. Sources: NHS GMS,Expert Review Green
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, MONDO:0009759; Mosaic variegated aneuploidy syndrome 1, OMIM:257300
Sarcoma of possible germline origin v0.0 Achchuthan Shanmugasundram Added Panel Sarcoma of possible germline origin
Set list of related panels to R457
Set panel types to: GMS Rare Disease Virtual; GMS Rare Disease