Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Adult solid tumours cancer susceptibility v2.29 | 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; Familial Gastrointestinal stromal tumour; Familial GIST | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v2.28 | 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 cancer susceptibility v2.25 | 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 cancer susceptibility v2.24 | TERT | Arina Puzriakova Phenotypes for gene: TERT were changed from {Dyskeratosis congenita, autosomal recessive 4}, 613989; {Dyskeratosis congenita, autosomal dominant 2}, 613989 to Dyskeratosis congenita, autosomal dominant 2, OMIM:613989; Dyskeratosis congenita, autosomal recessive 4, OMIM:613989; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742; {Leukemia, acute myeloid}, OMIM:601626; {Melanoma, cutaneous malignant, 9}, OMIM:615134 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v2.23 | SUFU | Arina Puzriakova Phenotypes for gene: SUFU were changed from SUFU associated Medulloblastoma to Basal cell nevus syndrome, OMIM:109400; {Medulloblastoma}, OMIM:155255; {Meningioma, familial, susceptibility to}, OMIM:607174 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v2.22 | 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 cancer susceptibility v2.21 | 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 cancer susceptibility v2.20 | PARN | Arina Puzriakova Phenotypes for gene: PARN were changed from 616353 Dyskeratosis congenita, autosomal recessive 6; 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 to Dyskeratosis congenita, autosomal recessive 6, OMIM:616353; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, OMIM:616371 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v2.19 | EPCAM | Arina Puzriakova Phenotypes for gene: EPCAM were changed from Lynch syndrome to Colorectal cancer, hereditary nonpolyposis, type 8, OMIM:613244 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v2.18 | 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 cancer susceptibility v2.17 | 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 cancer susceptibility v2.16 | 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 cancer susceptibility v2.15 | KIT | Arina Puzriakova Phenotypes for gene: KIT were changed from Gastro-Intestinal Stromal Tumor to Gastrointestinal stromal tumor, familial, OMIM:606764 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v2.14 | 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 cancer susceptibility v2.13 | ATM | Arina Puzriakova Phenotypes for gene: ATM were changed from Ataxia Telangiectasia to Ataxia-telangiectasia, OMIM:208900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v2.12 | ACD | Arina Puzriakova Phenotypes for gene: ACD were changed from 616553 ?Dyskeratosis congenita 6 and 7 to Dyskeratosis congenita, autosomal dominant 6, OMIM:616553; Dyskeratosis congenita, autosomal recessive 7, OMIM:616553 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v2.11 | MAX | Arina Puzriakova Phenotypes for gene: MAX were changed from Familial Pheochromocytoma, adrenal to {Pheochromocytoma, susceptibility to}, OMIM:171300; Familial Pheochromocytoma, adrenal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v2.10 | POLH | Arina Puzriakova Phenotypes for gene: POLH were changed from Xeroderma pigmentosum, variant type, 278750 to Xeroderma pigmentosum, variant type, OMIM:278750 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v2.9 | PALB2 | Arina Puzriakova Publications for gene: PALB2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v2.8 | 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 cancer susceptibility v2.7 | RABL3 | Israel Gomy Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v2.7 | RABL3 | Israel Gomy Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v2.7 | DICER1 | Arina Puzriakova Phenotypes for gene: DICER1 were changed from DICER1 syndrome, Familial Multinodular Goiter to Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, OMIM:138800; Pleuropulmonary blastoma, OMIM:601200; Pleuropulmonary blastoma, MONDO:0011014; Rhabdomyosarcoma, embryonal, 2, OMIM:180295; Embryonal rhabdomyosarcoma (disease), MONDO:0009993; DICER1 syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v2.6 | PALB2 | Arina Puzriakova Phenotypes for gene: PALB2 were changed from breast, pancreas to Fanconi anemia, complementation group N, 610832; {Breast cancer, susceptibility to}, 114480; {Pancreatic cancer, susceptibility to, 3}, 613348; High Risk Breast Cancer; Breast and Ovarian Cancer | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v2.5 | NOP10 | Arina Puzriakova Phenotypes for gene: NOP10 were changed from Dyskeratosis Congenita to Dyskeratosis congenita, autosomal recessive 1, 224230 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v2.4 | DGCR8 | Ivone Leong Classified gene: DGCR8 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v2.4 | DGCR8 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. Added as a Red gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v2.4 | DGCR8 | Ivone Leong Gene: dgcr8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v2.3 | DGCR8 |
Zornitza Stark gene: DGCR8 was added gene: DGCR8 was added to Adult solid tumours cancer susceptibility. Sources: Literature Mode of inheritance for gene: DGCR8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DGCR8 were set to 31805011 Phenotypes for gene: DGCR8 were set to Early-onset multinodular goiter and schwannomatosis Review for gene: DGCR8 was set to RED Added comment: A germline missense variant segregates in one family with autosomal dominant Mendelian tumour susceptibility syndrome: familial multinodular goitre (MNG) with schwannomatosis. The missense is also a recurrent somatic missense variant in Wilms tumour. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v2.3 | Rebecca Foulger Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v2.1 | Ellen McDonagh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v2.0 | Ellen McDonagh promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.10 | Ellen McDonagh Panel types changed to Cancer Germline 100K; GMS Cancer Germline Virtual; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.9 | RABL3 | Ellen McDonagh Phenotypes for gene: RABL3 were changed from PANCREATIC CANCER, SUSCEPTIBILITY TO, 5; PNCA5 OMIM 618680 to {?Pancreatic cancer, susceptibility to, 5} 618680 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.8 | RABL3 | Ellen McDonagh Marked gene: RABL3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.8 | RABL3 | Ellen McDonagh Gene: rabl3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.8 | RABL3 | Ellen McDonagh Classified gene: RABL3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.8 | RABL3 | Ellen McDonagh Added comment: Comment on list classification: This gene was added by a reviewer and rated Green. Curated and added to the panel as Red, as this is a new publication describing only one family where a variant in this gene was reported as being associated with hereditary pancreatic cancer (PMID: 31406347). This is still displayed in OMIM as {?Pancreatic cancer, susceptibility to, 5} until more evidence arises. Functional evidence for an effect, but as there is only one family, this should remain Red until further evidence arises. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.8 | RABL3 | Ellen McDonagh Gene: rabl3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.7 | RABL3 |
Israel Gomy gene: RABL3 was added gene: RABL3 was added to Adult solid tumours cancer susceptibility. Sources: Literature,Research Mode of inheritance for gene: RABL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RABL3 were set to 31406347 Phenotypes for gene: RABL3 were set to PANCREATIC CANCER, SUSCEPTIBILITY TO, 5; PNCA5 OMIM 618680 Penetrance for gene: RABL3 were set to unknown Mode of pathogenicity for gene: RABL3 was set to Other Review for gene: RABL3 was set to GREEN Added comment: Susceptibility to pancreatic ductal adenocarcinoma (PDAC) may be conferred by mutation in RABL3. Other cancers, including melanoma, breast cancer, and colon cancer, have been reported in RABL3 mutation-carrying individuals, with or without PDAC. Expression of S36X-mutant RABL3 in HEK293T cells resulted in enhanced cell proliferation consistent with an oncogenic effect. Zebrafish with truncated rabl3 protein developed cancers at a statistically significant elevated rate compared to wildtype sibs. Other studies in zebrafish confirmed the role of mutant RABL3 in promoting cancer susceptibility. Sources: Literature, Research |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.7 | VHL | Ivone Leong Phenotypes for gene: VHL were changed from Familial Paraganglioma and Pheochromocytoma to Familial Paraganglioma and Pheochromocytoma; VON HIPPEL-LINDAU (VHL) SYNDROME, 193300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.6 | VHL | Israel Gomy reviewed gene: VHL: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: VON HIPPEL-LINDAU (VHL) SYNDROME, OMIM 193300; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | SOS2 | Ivone Leong reviewed gene: SOS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | RIT1 | Ivone Leong reviewed gene: RIT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | PPP1CB | Ivone Leong reviewed gene: PPP1CB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | LZTR1 | Ivone Leong reviewed gene: LZTR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | SPRED1 | Ivone Leong commented on gene: SPRED1: As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that RASopathy associated genes associated with cancer will be included in this panel; however, this gene does not appear to predispose patients to cancer so therefore this has been rated red. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | MAP2K2 | Ivone Leong reviewed gene: MAP2K2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | MAP2K1 | Ivone Leong reviewed gene: MAP2K1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | BRAF | Ivone Leong reviewed gene: BRAF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | SOS1 | Ivone Leong reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | SHOC2 | Ivone Leong reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | RAF1 | Ivone Leong reviewed gene: RAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | PTPN11 | Ivone Leong reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | NRAS | Ivone Leong reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | KRAS | Ivone Leong reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | HRAS | Ivone Leong reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | FANCL | Ivone Leong reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | FANCI | Ivone Leong reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | FANCG | Ivone Leong reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | FANCF | Ivone Leong reviewed gene: FANCF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | FANCE | Ivone Leong reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | FANCD2 | Ivone Leong reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | FANCC | Ivone Leong reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | FANCB | Ivone Leong reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | FANCA | Ivone Leong reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | WRAP53 | Ivone Leong reviewed gene: WRAP53: Rating: GREEN; Mode of pathogenicity: ; Publications: 22285015; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | TERC | Ivone Leong reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: ; Publications: 22285015; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | SPRED1 | Ivone Leong reviewed gene: SPRED1: Rating: RED; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | POLH | Ivone Leong reviewed gene: POLH: Rating: GREEN; Mode of pathogenicity: ; Publications: 26884178, 24877075, 30511002, 11773631; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | RTEL1 | Ivone Leong reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24582487; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | DKC1 | Ivone Leong reviewed gene: DKC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | ACD | Ivone Leong reviewed gene: ACD: Rating: AMBER; Mode of pathogenicity: ; Publications: 25233904, 25205116; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | XPC | Ivone Leong reviewed gene: XPC: Rating: GREEN; Mode of pathogenicity: ; Publications: 26975629, 30565713, 21097776; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | XPA | Ivone Leong reviewed gene: XPA: Rating: GREEN; Mode of pathogenicity: ; Publications: 26975629, 30565713, 21097776; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | TERT | Ivone Leong reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: ; Publications: 22285015; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | MAP2K2 | Anna de Burca reviewed gene: MAP2K2: Rating: AMBER; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | MAP2K1 | Anna de Burca reviewed gene: MAP2K1: Rating: AMBER; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | ERCC5 | Ivone Leong reviewed gene: ERCC5: Rating: GREEN; Mode of pathogenicity: ; Publications: 9096355, 7951246, 23255472, 1206391, 10026181, 11841555, 26884178; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | ERCC3 | Ivone Leong reviewed gene: ERCC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 16947863, 26884178; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | ERCC2 | Ivone Leong reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26884178, 28376890; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | DDB2 | Ivone Leong reviewed gene: DDB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26884178, 21107348, 104693112, 12812979; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | BRAF | Anna de Burca reviewed gene: BRAF: Rating: AMBER; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | SOS1 | Anna de Burca reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | SHOC2 | Anna de Burca reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | RAF1 | Anna de Burca reviewed gene: RAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | PTPN11 | Anna de Burca reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | NRAS | Anna de Burca reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | KRAS | Anna de Burca reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | HRAS | Anna de Burca reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | ERCC4 | Ivone Leong reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | CBL | Ivone Leong reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | CBL | Anna de Burca reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | WT1 | Ivone Leong reviewed gene: WT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | VHL | Ivone Leong reviewed gene: VHL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | TSC2 | Ivone Leong reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | TSC1 | Ivone Leong reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | TP53 | Ivone Leong reviewed gene: TP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | TMEM127 | Ivone Leong reviewed gene: TMEM127: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | SUFU | Ivone Leong reviewed gene: SUFU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | STK11 | Ivone Leong reviewed gene: STK11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | SMARCB1 | Ivone Leong reviewed gene: SMARCB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | SMARCA4 | Ivone Leong reviewed gene: SMARCA4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | SMAD4 | Ivone Leong reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | SDHD | Ivone Leong reviewed gene: SDHD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | SDHC | Ivone Leong reviewed gene: SDHC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | SDHB | Ivone Leong reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | SDHAF2 | Ivone Leong reviewed gene: SDHAF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | SDHA | Ivone Leong reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | RET | Ivone Leong reviewed gene: RET: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | RB1 | Ivone Leong reviewed gene: RB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | RAD51D | Ivone Leong reviewed gene: RAD51D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | RAD51C | Ivone Leong reviewed gene: RAD51C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | PTEN | Ivone Leong reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | PTCH1 | Ivone Leong reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | POLE | Ivone Leong reviewed gene: POLE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | POLD1 | Ivone Leong reviewed gene: POLD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | PMS2 | Ivone Leong reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | PALB2 | Ivone Leong reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | NTHL1 | Ivone Leong reviewed gene: NTHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | NF2 | Ivone Leong reviewed gene: NF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | NF1 | Ivone Leong reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | MUTYH | Ivone Leong reviewed gene: MUTYH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | MSH6 | Ivone Leong reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | MSH2 | Ivone Leong reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | MLH1 | Ivone Leong reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | MET | Ivone Leong reviewed gene: MET: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | MEN1 | Ivone Leong reviewed gene: MEN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | MAX | Ivone Leong reviewed gene: MAX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | KIT | Ivone Leong reviewed gene: KIT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | FLCN | Ivone Leong reviewed gene: FLCN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | FH | Ivone Leong reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | EPCAM | Ivone Leong reviewed gene: EPCAM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | DICER1 | Ivone Leong reviewed gene: DICER1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | CDKN2A | Ivone Leong reviewed gene: CDKN2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | CDKN1B | Ivone Leong reviewed gene: CDKN1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | CDK4 | Ivone Leong reviewed gene: CDK4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | CDH1 | Ivone Leong reviewed gene: CDH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | CDC73 | Ivone Leong reviewed gene: CDC73: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | BRIP1 | Ivone Leong reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | BRCA2 | Ivone Leong reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | BRCA1 | Ivone Leong reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | BMPR1A | Ivone Leong reviewed gene: BMPR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | BAP1 | Ivone Leong reviewed gene: BAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | ATM | Ivone Leong reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.5 | APC | Ivone Leong reviewed gene: APC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | SLX4 |
Ivone Leong gene: SLX4 was added gene: SLX4 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLX4 were set to Fanconi anemia, complementation group P, 613951 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | FANCL |
Ivone Leong gene: FANCL was added gene: FANCL was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCL were set to 19686080 Phenotypes for gene: FANCL were set to Fanconi Anemia |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | FANCI |
Ivone Leong gene: FANCI was added gene: FANCI was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCI were set to 19686080 Phenotypes for gene: FANCI were set to Fanconi Anemia |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | FANCG |
Ivone Leong gene: FANCG was added gene: FANCG was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCG were set to 19686080 Phenotypes for gene: FANCG were set to Fanconi Anemia |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | FANCF |
Ivone Leong gene: FANCF was added gene: FANCF was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCF were set to 19686080 Phenotypes for gene: FANCF were set to Fanconi Anemia |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | FANCE |
Ivone Leong gene: FANCE was added gene: FANCE was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCE were set to 19686080 Phenotypes for gene: FANCE were set to Fanconi Anemia |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | FANCD2 |
Ivone Leong gene: FANCD2 was added gene: FANCD2 was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCD2 were set to 19686080 Phenotypes for gene: FANCD2 were set to Fanconi Anemia |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | FANCC |
Ivone Leong gene: FANCC was added gene: FANCC was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCC were set to 19686080 Phenotypes for gene: FANCC were set to Fanconi Anemia |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | FANCB |
Ivone Leong gene: FANCB was added gene: FANCB was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: FANCB were set to Fanconi anemia, complementation group B, 300514 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | FANCA |
Ivone Leong gene: FANCA was added gene: FANCA was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCA were set to 19686080 Phenotypes for gene: FANCA were set to Fanconi Anemia |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | WRAP53 |
Ivone Leong gene: WRAP53 was added gene: WRAP53 was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WRAP53 were set to 22285015 Phenotypes for gene: WRAP53 were set to Dyskeratosis congenita, autosomal recessive 3, 613988 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | TINF2 |
Ivone Leong gene: TINF2 was added gene: TINF2 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TINF2 were set to Dyskeratosis congenita, autosomal dominant 3, 613990 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | TERC |
Ivone Leong gene: TERC was added gene: TERC was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TERC were set to 22285015 Phenotypes for gene: TERC were set to Dyskeratosis congenita, autosomal dominant 1, 127550 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | SPRED1 |
Ivone Leong gene: SPRED1 was added gene: SPRED1 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPRED1 were set to 23875798 Phenotypes for gene: SPRED1 were set to Legius syndrome 611431 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | NOP10 |
Ivone Leong gene: NOP10 was added gene: NOP10 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS Mode of inheritance for gene: NOP10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NOP10 were set to Dyskeratosis Congenita |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | POLH |
Ivone Leong gene: POLH was added gene: POLH was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: POLH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLH were set to 24877075; 11773631; 26884178; 30511002 Phenotypes for gene: POLH were set to Xeroderma pigmentosum, variant type, 278750 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | RTEL1 |
Ivone Leong gene: RTEL1 was added gene: RTEL1 was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RTEL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RTEL1 were set to 24582487 Phenotypes for gene: RTEL1 were set to Dyskeratosis congenita, autosomal recessive 5 615190; 615190 DC type 4 and 5; 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related; Dyskeratosis congenita, autosomal dominant 4, 615190; Dyskeratosis congenita, autosomal recessive 5, 615190; 615190 Dyskeratosis congenita; 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | PARN |
Ivone Leong gene: PARN was added gene: PARN was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: PARN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PARN were set to 616353 Dyskeratosis congenita, autosomal recessive 6; 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | DKC1 |
Ivone Leong gene: DKC1 was added gene: DKC1 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: DKC1 were set to Dyskeratosis congenita, autosomal recessive 6, 616353 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | CTC1 |
Ivone Leong gene: CTC1 was added gene: CTC1 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTC1 were set to Dyskeratosis congenita; Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita; Inherited Bone Marrow Failure Syndromes; Dyskeratosis Congenita, Recessive; 612199 Coats plus syndrome |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | ACD |
Ivone Leong gene: ACD was added gene: ACD was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: ACD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ACD were set to 25233904; 25205116 Phenotypes for gene: ACD were set to 616553 ?Dyskeratosis congenita 6 and 7 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | SOS2 |
Ivone Leong gene: SOS2 was added gene: SOS2 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SOS2 were set to Noonan syndrome 9 616559 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | RIT1 |
Ivone Leong gene: RIT1 was added gene: RIT1 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RIT1 were set to Noonan syndrome 8 615355 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | PPP1CB |
Ivone Leong gene: PPP1CB was added gene: PPP1CB was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PPP1CB were set to Rasopathy with developmental delay, short stature and sparse slow-growing hair; Noonan syndrome-like disorder with loose anagen hair 2, 617506 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | LZTR1 |
Ivone Leong gene: LZTR1 was added gene: LZTR1 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: LZTR1 were set to Noonan syndrome 10 616564; Schwannomatosis-2, susceptibility to 615670 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | XPC |
Ivone Leong gene: XPC was added gene: XPC was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XPC were set to 21097776; 26975629; 30565713 Phenotypes for gene: XPC were set to Xeroderma pigmentosum, group C, 278720 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | XPA |
Ivone Leong gene: XPA was added gene: XPA was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XPA were set to 21097776; 26975629; 30565713 Phenotypes for gene: XPA were set to Xeroderma pigmentosum, group A, 278700 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | TERT |
Ivone Leong gene: TERT was added gene: TERT was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TERT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TERT were set to 22285015 Phenotypes for gene: TERT were set to {Dyskeratosis congenita, autosomal recessive 4}, 613989; {Dyskeratosis congenita, autosomal dominant 2}, 613989 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | MAP2K2 |
Ivone Leong gene: MAP2K2 was added gene: MAP2K2 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAP2K2 were set to 23875798 Phenotypes for gene: MAP2K2 were set to Cardiofaciocutaneous syndrome 4 615280 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | MAP2K1 |
Ivone Leong gene: MAP2K1 was added gene: MAP2K1 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAP2K1 were set to 23875798 Phenotypes for gene: MAP2K1 were set to Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; CFC syndrome; LEOPARD syndrome; Cardiofaciocutaneous syndrome 3; ?Noonan syndrome |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | ERCC5 |
Ivone Leong gene: ERCC5 was added gene: ERCC5 was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC5 were set to 26884178; 10026181; 7951246; 11841555; 9096355; 23255472; 1206391 Phenotypes for gene: ERCC5 were set to Xeroderma pigmentosum, group G, 278780 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | ERCC3 |
Ivone Leong gene: ERCC3 was added gene: ERCC3 was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC3 were set to 26884178; 16947863 Phenotypes for gene: ERCC3 were set to Xeroderma pigmentosum, group B, 610651 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | ERCC2 |
Ivone Leong gene: ERCC2 was added gene: ERCC2 was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC2 were set to 26884178; 28376890 Phenotypes for gene: ERCC2 were set to Xeroderma pigmentosum, group D, 278730 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | ERCC1 |
Ivone Leong gene: ERCC1 was added gene: ERCC1 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: ERCC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC1 were set to Xeroderma Pigmentosa; Cerebrooculofacioskeletal syndrome 4, 610758 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | DDB2 |
Ivone Leong gene: DDB2 was added gene: DDB2 was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DDB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDB2 were set to 12812979; 21107348; 26884178; 104693112 Phenotypes for gene: DDB2 were set to Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | BRAF |
Ivone Leong gene: BRAF was added gene: BRAF was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BRAF were set to 23875798 Phenotypes for gene: BRAF were set to Cardiofaciocutaneous syndrome 115150; Noonan syndrome 7 613706; LEOPARD syndrome 3 613707 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | SOS1 |
Ivone Leong gene: SOS1 was added gene: SOS1 was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOS1 were set to 23875798 Phenotypes for gene: SOS1 were set to Noonan syndrome 4 610733 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | SHOC2 |
Ivone Leong gene: SHOC2 was added gene: SHOC2 was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SHOC2 were set to 23875798 Phenotypes for gene: SHOC2 were set to Noonan-like syndrome with loose anagen hair |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | RAF1 |
Ivone Leong gene: RAF1 was added gene: RAF1 was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAF1 were set to 23875798 Phenotypes for gene: RAF1 were set to LEOPARD syndrome 2 611554; Noonan syndrome 5 611553 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | PTPN11 |
Ivone Leong gene: PTPN11 was added gene: PTPN11 was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PTPN11 were set to 23875798 Phenotypes for gene: PTPN11 were set to Noonan syndrome |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | NRAS |
Ivone Leong gene: NRAS was added gene: NRAS was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NRAS were set to 23875798 Phenotypes for gene: NRAS were set to Cardio-Facio-cutanenous syndrome; Noonan syndrome 6 613224; CFC Syndrome |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | KRAS |
Ivone Leong gene: KRAS was added gene: KRAS was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KRAS were set to 23875798 Phenotypes for gene: KRAS were set to Noonan syndrome 3 609942; Cardiofaciocutaneous syndrome 2 615278 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | HRAS |
Ivone Leong gene: HRAS was added gene: HRAS was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HRAS were set to 23875798 Phenotypes for gene: HRAS were set to Costello syndrome |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | ERCC4 |
Ivone Leong gene: ERCC4 was added gene: ERCC4 was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC4 were set to Fanconi anemia, complementation group Q, 615272; Xeroderma pigmentosum, group F, 278760 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | CBL |
Ivone Leong gene: CBL was added gene: CBL was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CBL were set to 23875798 Phenotypes for gene: CBL were set to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | EXT2 | Ivone Leong Source NHS GMS was added to EXT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | EXT1 | Ivone Leong Source NHS GMS was added to EXT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | CHEK2 | Ivone Leong Source NHS GMS was added to CHEK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | AIP | Ivone Leong Source NHS GMS was added to AIP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | WT1 | Ivone Leong Source NHS GMS was added to WT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | VHL | Ivone Leong Source NHS GMS was added to VHL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | TSC2 | Ivone Leong Source NHS GMS was added to TSC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | TSC1 | Ivone Leong Source NHS GMS was added to TSC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | TP53 | Ivone Leong Source NHS GMS was added to TP53. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | TMEM127 | Ivone Leong Source NHS GMS was added to TMEM127. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | SUFU | Ivone Leong Source NHS GMS was added to SUFU. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | STK11 | Ivone Leong Source NHS GMS was added to STK11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | SMARCB1 | Ivone Leong Source NHS GMS was added to SMARCB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | SMARCA4 | Ivone Leong Source NHS GMS was added to SMARCA4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | SMAD4 | Ivone Leong Source NHS GMS was added to SMAD4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | SDHD | Ivone Leong Source NHS GMS was added to SDHD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | SDHC | Ivone Leong Source NHS GMS was added to SDHC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | SDHB | Ivone Leong Source NHS GMS was added to SDHB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | SDHAF2 | Ivone Leong Source NHS GMS was added to SDHAF2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | SDHA | Ivone Leong Source NHS GMS was added to SDHA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | RET | Ivone Leong Source NHS GMS was added to RET. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | RB1 | Ivone Leong Source NHS GMS was added to RB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | RAD51D | Ivone Leong Source NHS GMS was added to RAD51D. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | RAD51C | Ivone Leong Source NHS GMS was added to RAD51C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | PTEN | Ivone Leong Source NHS GMS was added to PTEN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | PTCH1 | Ivone Leong Source NHS GMS was added to PTCH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | POLE | Ivone Leong Source NHS GMS was added to POLE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | POLD1 | Ivone Leong Source NHS GMS was added to POLD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | PMS2 | Ivone Leong Source NHS GMS was added to PMS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | PALB2 | Ivone Leong Source NHS GMS was added to PALB2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | NTHL1 | Ivone Leong Source NHS GMS was added to NTHL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | NF2 | Ivone Leong Source NHS GMS was added to NF2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | NF1 | Ivone Leong Source NHS GMS was added to NF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | MUTYH | Ivone Leong Source NHS GMS was added to MUTYH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | MSH6 | Ivone Leong Source NHS GMS was added to MSH6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | MSH2 | Ivone Leong Source NHS GMS was added to MSH2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | MLH1 | Ivone Leong Source NHS GMS was added to MLH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | MET | Ivone Leong Source NHS GMS was added to MET. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | MEN1 | Ivone Leong Source NHS GMS was added to MEN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | MAX | Ivone Leong Source NHS GMS was added to MAX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | KIT | Ivone Leong Source NHS GMS was added to KIT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | FLCN | Ivone Leong Source NHS GMS was added to FLCN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | FH | Ivone Leong Source NHS GMS was added to FH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | EPCAM | Ivone Leong Source NHS GMS was added to EPCAM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | DICER1 | Ivone Leong Source NHS GMS was added to DICER1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | CDKN2A | Ivone Leong Source NHS GMS was added to CDKN2A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | CDKN1B | Ivone Leong Source NHS GMS was added to CDKN1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | CDK4 | Ivone Leong Source NHS GMS was added to CDK4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | CDH1 | Ivone Leong Source NHS GMS was added to CDH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | CDC73 | Ivone Leong Source NHS GMS was added to CDC73. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | BRIP1 | Ivone Leong Source NHS GMS was added to BRIP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | BRCA2 | Ivone Leong Source NHS GMS was added to BRCA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | BRCA1 | Ivone Leong Source NHS GMS was added to BRCA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | BMPR1A | Ivone Leong Source NHS GMS was added to BMPR1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | BAP1 | Ivone Leong Source NHS GMS was added to BAP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | ATM | Ivone Leong Source NHS GMS was added to ATM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.4 | APC | Ivone Leong Source NHS GMS was added to APC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.3 | Ellen McDonagh Panel types changed to Cancer Germline 100K; GMS Cancer Germline Virtual | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.2 | PDGFRA | Ellen McDonagh commented on gene: PDGFRA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.2 | EXT2 | Ellen McDonagh commented on gene: EXT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.2 | EXT1 | Ellen McDonagh commented on gene: EXT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.2 | AIP | Ellen McDonagh commented on gene: AIP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.2 | PDGFRA |
Ellen McDonagh gene: PDGFRA was added gene: PDGFRA was added to Adult solid tumours cancer susceptibility. 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.2 | EXT2 |
Ellen McDonagh gene: EXT2 was added gene: EXT2 was added to Adult solid tumours 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 27636706; 29529714; 23770606; 7726168 Phenotypes for gene: EXT2 were set to Exostoses, multiple, type 2 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.2 | EXT1 |
Ellen McDonagh gene: EXT1 was added gene: EXT1 was added to Adult solid tumours 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 29529714; 10441575; 23770606 Phenotypes for gene: EXT1 were set to Chondrosarcoma 215300 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.2 | AIP |
Ellen McDonagh gene: AIP was added gene: AIP was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Amber,Literature Mode of inheritance for gene: AIP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AIP were set to 17360484 Phenotypes for gene: AIP were set to Pituitary adenoma 1, multiple types 102200 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.1 |
Ellen McDonagh Panel name changed from Adult solid tumours pertinent cancer susceptibility to Adult solid tumours cancer susceptibility List of related panels changed from Carcinoma of unknown primary; Other to Carcinoma of unknown primary; Other; Adult solid tumours pertinent cancer susceptibility |
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility v1.0 | Louise Daugherty promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | CHEK2 | Ellen McDonagh classified CHEK2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | CDKN1B | Ellen McDonagh commented on gene: CDKN1B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | CDKN1B | Ellen McDonagh commented on CDKN1B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | ATM | Ellen McDonagh commented on ATM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | Ellen McDonagh approved panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | RAD51D | Clare Turnbull reviewed RAD51D | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | CDKN1B | Clare Turnbull reviewed CDKN1B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | NTHL1 | Clare Turnbull reviewed NTHL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | MUTYH | Clare Turnbull reviewed MUTYH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | POLE | Clare Turnbull reviewed POLE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | WT1 | Clare Turnbull reviewed WT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | VHL | Clare Turnbull reviewed VHL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | TSC2 | Clare Turnbull reviewed TSC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | TSC1 | Clare Turnbull reviewed TSC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | TP53 | Clare Turnbull reviewed TP53 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | TMEM127 | Clare Turnbull reviewed TMEM127 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | SUFU | Clare Turnbull reviewed SUFU | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | STK11 | Clare Turnbull reviewed STK11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | SMARCB1 | Clare Turnbull reviewed SMARCB1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | SMARCA4 | Clare Turnbull reviewed SMARCA4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | SMAD4 | Clare Turnbull reviewed SMAD4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | SDHD | Clare Turnbull reviewed SDHD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | SDHC | Clare Turnbull reviewed SDHC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | SDHB | Clare Turnbull reviewed SDHB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | SDHAF2 | Clare Turnbull reviewed SDHAF2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | SDHA | Clare Turnbull reviewed SDHA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | RET | Clare Turnbull reviewed RET | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | RB1 | Clare Turnbull reviewed RB1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | RAD51C | Clare Turnbull reviewed RAD51C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | PTEN | Clare Turnbull reviewed PTEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | PTCH1 | Clare Turnbull reviewed PTCH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | POLD1 | Clare Turnbull reviewed POLD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | PMS2 | Clare Turnbull reviewed PMS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | PALB2 | Clare Turnbull reviewed PALB2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | NF2 | Clare Turnbull reviewed NF2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | NF1 | Clare Turnbull reviewed NF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | MSH6 | Clare Turnbull reviewed MSH6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | MSH2 | Clare Turnbull reviewed MSH2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | MLH1 | Clare Turnbull reviewed MLH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | MET | Clare Turnbull reviewed MET | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | MEN1 | Clare Turnbull reviewed MEN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | MAX | Clare Turnbull reviewed MAX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | KIT | Clare Turnbull reviewed KIT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | FLCN | Clare Turnbull reviewed FLCN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | FH | Clare Turnbull reviewed FH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | EPCAM | Clare Turnbull reviewed EPCAM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | DICER1 | Clare Turnbull reviewed DICER1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | CHEK2 | Clare Turnbull reviewed CHEK2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | CDKN2A | Clare Turnbull reviewed CDKN2A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | CDK4 | Clare Turnbull reviewed CDK4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | CDH1 | Clare Turnbull reviewed CDH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | CDC73 | Clare Turnbull reviewed CDC73 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | BRIP1 | Clare Turnbull reviewed BRIP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | BRCA2 | Clare Turnbull reviewed BRCA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | BRCA1 | Clare Turnbull reviewed BRCA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | BMPR1A | Clare Turnbull reviewed BMPR1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | BAP1 | Clare Turnbull reviewed BAP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | ATM | Clare Turnbull reviewed ATM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult solid tumours cancer susceptibility | APC | Clare Turnbull reviewed APC |