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Adult solid tumours for rare disease v1.40 PDGFRA Arina Puzriakova Phenotypes for gene: PDGFRA were changed from Gastrointestinal stromal tumor to Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, OMIM:175510
Adult solid tumours for rare disease v1.39 CDKN2A Arina Puzriakova Phenotypes for gene: CDKN2A were changed from Familial Malignant Melanoma and Tumors of the Nervous system, Familial Uveal Melanoma to {Melanoma, cutaneous malignant, 2}, OMIM:155601; {Melanoma and neural system tumor syndrome}, OMIM:155755; {Melanoma-pancreatic cancer syndrome}, OMIM:606719
Adult solid tumours for rare disease v1.38 BAP1 Arina Puzriakova Phenotypes for gene: BAP1 were changed from Melanocytic Tumor syndrome, Familial Uveal Melanoma to Tumor predisposition syndrome 1, OMIM:614327; {Uveal melanoma, susceptibility to, 2}, OMIM:606661
Adult solid tumours for rare disease v1.37 PTCH1 Arina Puzriakova Phenotypes for gene: PTCH1 were changed from Gorlin syndrome, BCC to Basal cell nevus syndrome 1, OMIM:109400; Gorlin syndrome
Adult solid tumours for rare disease v1.36 PDGFRA Sumir Pandit reviewed gene: PDGFRA: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 29486293; Phenotypes: ; Mode of inheritance: None
Adult solid tumours for rare disease v1.36 SUFU Arina Puzriakova Phenotypes for gene: SUFU were changed from {Medulloblastoma}, OMIM:155255; {Meningioma, familial, susceptibility to}, OMIM:607174 to Basal cell nevus syndrome, OMIM:109400; {Medulloblastoma}, OMIM:155255; {Meningioma, familial, susceptibility to}, OMIM:607174
Adult solid tumours for rare disease v1.35 SUFU Arina Puzriakova Phenotypes for gene: SUFU were changed from SUFU associated Medulloblastoma to {Medulloblastoma}, OMIM:155255; {Meningioma, familial, susceptibility to}, OMIM:607174
Adult solid tumours for rare disease v1.34 SDHB Arina Puzriakova Phenotypes for gene: SDHB were changed from Familial Paraganglioma and Pheochromocytoma to Paragangliomas 4, OMIM:115310; Pheochromocytoma, OMIM:171300; Paraganglioma and gastric stromal sarcoma, OMIM:606864; Gastrointestinal stromal tumor, OMIM:606764
Adult solid tumours for rare disease v1.33 FH Arina Puzriakova Phenotypes for gene: FH were changed from Hereditary Leiomyomatosis and Renal Cell Cancer to Leiomyomatosis and renal cell cancer, OMIM:150800
Adult solid tumours for rare disease v1.32 EPCAM Arina Puzriakova Phenotypes for gene: EPCAM were changed from Lynch syndrome to Colorectal cancer, hereditary nonpolyposis, type 8, OMIM:613244
Adult solid tumours for rare disease v1.31 BRIP1 Arina Puzriakova Phenotypes for gene: BRIP1 were changed from predisposition to ovarian cancer to {Breast cancer, early-onset, susceptibility to}, OMIM:114480
Adult solid tumours for rare disease v1.30 BRCA2 Arina Puzriakova Phenotypes for gene: BRCA2 were changed from Hereditary Breast and Ovarian Cancer to {Breast-ovarian cancer, familial, 2}, OMIM:612555; {Breast cancer, male, susceptibility to}, OMIM:114480; {Prostate cancer}, OMIM:176807
Adult solid tumours for rare disease v1.29 BRCA1 Arina Puzriakova Added comment: Comment on mode of inheritance: Updated MOI from 'monoallelic' to 'both mono- and biallelic' to align with the MOI set on the GMS Adult solid tumours cancer susceptibility (v2.2) panel. Although more rare, biallelic BRCA1 variants have been shown to also confer breast and ovarian cancer susceptibility (with or without FA‐like features), and multiple such cases have been reported worldwide (PMIDs: 23269703; 25472942; 31347298; 33477375).
Adult solid tumours for rare disease v1.29 BRCA1 Arina Puzriakova Mode of inheritance for gene: BRCA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult solid tumours for rare disease v1.28 BRCA1 Arina Puzriakova Phenotypes for gene: BRCA1 were changed from Hereditary Breast and Ovarian Cancer to {Breast-ovarian cancer, familial, 1}, OMIM:604370; Fanconi anemia, complementation group S, OMIM:617883
Adult solid tumours for rare disease v1.27 ISCA-37401-Loss Ivone Leong commented on Region: ISCA-37401-Loss
Adult solid tumours for rare disease v1.27 ISCA-37401-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37401-Loss was changed from 80 to 60.
Adult solid tumours for rare disease v1.26 KIT Arina Puzriakova Phenotypes for gene: KIT were changed from Gastro-Intestinal Stromal Tumor to Gastrointestinal stromal tumor, familial, OMIM:606764
Adult solid tumours for rare disease v1.25 CDKN1B Arina Puzriakova Phenotypes for gene: CDKN1B were changed from Thyroid cancer; Pituitary adenoma to Multiple endocrine neoplasia, type IV, OMIM:610755; Thyroid cancer; Pituitary adenoma
Adult solid tumours for rare disease v1.24 ATM Arina Puzriakova Phenotypes for gene: ATM were changed from Ataxia Telangiectasia to Ataxia-telangiectasia, OMIM:208900
Adult solid tumours for rare disease v1.23 MAX Arina Puzriakova Phenotypes for gene: MAX were changed from Familial Pheochromocytoma, adrenal to {Pheochromocytoma, susceptibility to}, OMIM:171300
Adult solid tumours for rare disease v1.21 VHL Anna de Burca reviewed gene: VHL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28785532; Phenotypes: von Hippel-Lindau syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult solid tumours for rare disease v1.21 PDGFRA Anna de Burca gene: PDGFRA was added
gene: PDGFRA was added to Adult solid tumours for rare disease. Sources: Literature
Mode of inheritance for gene: PDGFRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PDGFRA were set to Gastrointestinal stromal tumor
Penetrance for gene: PDGFRA were set to Incomplete
Review for gene: PDGFRA was set to AMBER
Added comment: Although GIST is predominantly associated with somatic variants in this gene, germline variants have been described in familial GIST and it is green on the sarcoma pertinent cancer susceptibility panel.
Sources: Literature
Adult solid tumours for rare disease v1.20 ISCA-37401-Loss Louise Daugherty Region: ISCA-37401-Loss was added
Region: ISCA-37401-Loss was added to Adult solid tumours for rare disease. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37401-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37401-Loss were set to Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome; 194072
Adult solid tumours for rare disease ATM Helen Brittain reviewed gene: ATM
Adult solid tumours for rare disease CHEK2 Helen Brittain classified CHEK2 as Amber List (moderate evidence)
Adult solid tumours for rare disease CHEK2 Helen Brittain reviewed gene: CHEK2
Adult solid tumours for rare disease CHEK2 Ellen McDonagh classified CHEK2 as Green List (high evidence)
Adult solid tumours for rare disease CDKN1B Ellen McDonagh commented on gene: CDKN1B
Adult solid tumours for rare disease CHEK2 Ellen McDonagh classified CHEK2 as Red List (low evidence)
Adult solid tumours for rare disease EXT1 Rachel Jones marked EXT1 as ready
Adult solid tumours for rare disease EXT1 Rachel Jones classified EXT1 as Green List (high evidence)
Adult solid tumours for rare disease EXT2 Rachel Jones marked EXT2 as ready
Adult solid tumours for rare disease EXT2 Rachel Jones classified EXT2 as Green List (high evidence)
Adult solid tumours for rare disease EXT2 Rachel Jones Added gene to panel
Adult solid tumours for rare disease EXT1 Rachel Jones Added gene to panel
Adult solid tumours for rare disease Ellen McDonagh promoted panel to version 1.0
Adult solid tumours for rare disease AIP Helen Brittain marked AIP as ready
Adult solid tumours for rare disease AIP Helen Brittain classified AIP as Green List (high evidence)
Adult solid tumours for rare disease AIP Helen Brittain Added gene to panel
Adult solid tumours for rare disease WT1 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease VHL Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease TSC2 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease TSC1 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease TP53 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease TMEM127 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease SUFU Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease STK11 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease SMARCB1 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease SMARCA4 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease SMAD4 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease SDHD Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease SDHC Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease SDHB Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease SDHAF2 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease SDHA Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease RET Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease RB1 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease RAD51D Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease RAD51C Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease PTEN Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease PTCH1 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease POLE Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease POLD1 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease PMS2 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease PALB2 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease NTHL1 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease NF2 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease NF1 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease MUTYH Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease MSH6 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease MSH2 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease MLH1 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease MET Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease MEN1 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease MAX Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease KIT Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease FLCN Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease FH Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease EPCAM Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease DICER1 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease CHEK2 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease CDKN2A Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease CDKN1B Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease CDK4 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease CDH1 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease CDC73 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease BRIP1 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease BRCA2 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease BRCA1 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease BMPR1A Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease BAP1 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease ATM Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease APC Ellen McDonagh Added gene to panel