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Adult solid tumours cancer susceptibility v2.40 CHEK2 Arina Puzriakova Publications for gene: CHEK2 were set to 40335619
Adult solid tumours cancer susceptibility v2.39 CHEK2 Ida Ertmanska changed review comment from: PMID: 40335619 Stubbins et al., 2025
Cohort of patients with hereditary hematopoietic malignancies. 57 probands had germline P/LP CHEK2 variants, mostly p.I157T (53%, 30/57). Among CHEK2 p.I157T carriers, 43% (19/44) had myeloid malignancies, 32% (14/44) had lymphoid malignancies, and 2% (1/44) had both. Among those with other germline P/LP CHEK2 alleles, 36% (13/36) had myeloid malignancies, 28% (10/36) had lymphoid malignancies, and 6% (2/36) had both. CHEK2 p.I157T was enriched in HM patients (OR 6.44, 95%CI 3.68–10.73, P < 0.001).
In a solid tumor risk cohort, 36% (15/42) of CHEK2 p.I157T patients had a HM family history.

PMID: 39966186 Weis et al., 2025
Description of 12 patients - Brazilian women with early-stage breast cancer and CHEK2 variants (9/12 with onset before age 50yrs, and 9/12 had family history of breast cancer). 7 patients had intronic CHEK2 variants; the most common variant in this group was CHEK2: c.349A>G, p.Arg117Gly (4 patients).

PMID: 25798211 Kaczmarek-Rys et al., 2015
Polish cohort of 602 thyroid carcinoma patients and 829 controls. CHEK2 c.470 T > C (p.I157T, rs17879961) variant increases risk of thyroid carcinoma in Greater Poland population: increases the risk of developing differentiated thyroid cancer almost twice (OR = 1.81, p = 0.004), and the risk of papillary thyroid carcinoma in female patients homozygous for the c.470C allele was shown to increase almost 13-fold (OR = 12.81, p = 0.019).

CHEK2 is associated with Tumor predisposition syndrome 4, breast/prostate/colorectal, OMIM:609265 (OMIM accessed 17th Jun 2026. The association between CHEK2 and AD CHEK2-related cancer predisposition was classified as Definitive in ClinGen (Hereditary Cancer GCEP, Nov 2024).; to: PMID: 40335619 Stubbins et al., 2025
Cohort of patients with hereditary hematopoietic malignancies. 57 probands had germline P/LP CHEK2 variants, mostly p.I157T (53%, 30/57). Among CHEK2 p.I157T carriers, 43% (19/44) had myeloid malignancies, 32% (14/44) had lymphoid malignancies, and 2% (1/44) had both. Among those with other germline P/LP CHEK2 alleles, 36% (13/36) had myeloid malignancies, 28% (10/36) had lymphoid malignancies, and 6% (2/36) had both. CHEK2 p.I157T was enriched in HM patients (OR 6.44, 95%CI 3.68–10.73, P < 0.001).
In a solid tumor risk cohort, 36% (15/42) of CHEK2 p.I157T patients had a HM family history.

PMID: 39966186 Weis et al., 2025
Description of 12 patients - Brazilian women with early-stage breast cancer and CHEK2 variants (9/12 with onset before age 50yrs, and 9/12 had family history of breast cancer). 7 patients had intronic CHEK2 variants; the most common variant in this group was CHEK2: c.349A>G, p.Arg117Gly (4 patients).

PMID: 36360192 Kirchner et al., 2022
Study of a cohort of 150 Croatian men with prostate cancer, plus 442 cancer-free controls. 4/150 individuals harboured a P/LP variant in CHEK2, and developed prostate cancer on average almost 9 years earlier than individuals without CHEK2 variants.

PMID: 25798211 Kaczmarek-Rys et al., 2015
Polish cohort of 602 thyroid carcinoma patients and 829 controls. CHEK2 c.470 T > C (p.I157T, rs17879961) variant increases risk of thyroid carcinoma in Greater Poland population: increases the risk of developing differentiated thyroid cancer almost twice (OR = 1.81, p = 0.004), and the risk of papillary thyroid carcinoma in female patients homozygous for the c.470C allele was shown to increase almost 13-fold (OR = 12.81, p = 0.019).

CHEK2 is associated with Tumor predisposition syndrome 4, breast/prostate/colorectal, OMIM:609265 (OMIM accessed 17th Jun 2026. The association between CHEK2 and AD CHEK2-related cancer predisposition was classified as Definitive in ClinGen (Hereditary Cancer GCEP, Nov 2024).
Adult solid tumours cancer susceptibility v2.39 CHEK2 Ida Ertmanska changed review comment from: Comment on list classification: There are numerous individuals reported with CHEK2 variants and solid tumors. Hence, this gene will be suggested for promotion to Green on Adult solid tumours cancer susceptibility, with a request of expert review to determine if the gene fits into panel scope.; to: Comment on list classification: There are numerous individuals reported with CHEK2 variants and solid tumors e.g., in breast, thyroid, and prostate cancer. Hence, this gene will be suggested for promotion to Green on Adult solid tumours cancer susceptibility, with a request of expert review to determine if the gene fits into panel scope.
Adult solid tumours cancer susceptibility v2.39 CHEK2 Ida Ertmanska changed review comment from: Comment on list classification: There are numerous individuals reported with CHEK2 variants (most often p.Ile157Thr) and solid tumors. Hence, this gene will be suggested for promotion to Green on Adult solid tumours cancer susceptibility, with a request of expert review to determine if the gene fits into panel scope.; to: Comment on list classification: There are numerous individuals reported with CHEK2 variants and solid tumors. Hence, this gene will be suggested for promotion to Green on Adult solid tumours cancer susceptibility, with a request of expert review to determine if the gene fits into panel scope.
Adult solid tumours cancer susceptibility v2.39 CHEK2 Ida Ertmanska changed review comment from: PMID: 40335619 Stubbins et al., 2025
Cohort of patients with hereditary hematopoietic malignancies. 57 probands had germline P/LP CHEK2 variants, mostly p.I157T (53%, 30/57). Among CHEK2 p.I157T carriers, 43% (19/44) had myeloid malignancies, 32% (14/44) had lymphoid malignancies, and 2% (1/44) had both. Among those with other germline P/LP CHEK2 alleles, 36% (13/36) had myeloid malignancies, 28% (10/36) had lymphoid malignancies, and 6% (2/36) had both. CHEK2 p.I157T was enriched in HM patients (OR 6.44, 95%CI 3.68–10.73, P < 0.001).
In a solid tumor risk cohort, 36% (15/42) of CHEK2 p.I157T patients had a HM family history.

PMID: 39966186 Weis et al., 2025
Description of 12 patients - Brazilian women with early-stage breast cancer and CHEK2 variants (9/12 with onset before age 50yrs, and 9/12 had family history of breast cancer). 7 patients had intronic CHEK2 variants; the most common variant in this group was CHEK2: c.349A>G, p.Arg117Gly (4 patients).

PMID: 25798211 Kaczmarek-Rys et al., 2015
Polish cohort of 602 thyroid carcinoma patients and 829 controls. CHEK2 c.470 T > C (p.I157T, rs17879961) variant increases risk of thyroid carcinoma in Greater Poland population: increases the risk of developing differentiated thyroid cancer almost twice (OR = 1.81, p = 0.004), and the risk of papillary thyroid carcinoma in female patients homozygous for the c.470C allele was shown to increase almost 13-fold (OR = 12.81, p = 0.019).

CHEK2 is associated with Tumor predisposition syndrome 4, breast/prostate/colorectal, OMIM:609265 (OMIM accessed 17th Jun 2026.; to: PMID: 40335619 Stubbins et al., 2025
Cohort of patients with hereditary hematopoietic malignancies. 57 probands had germline P/LP CHEK2 variants, mostly p.I157T (53%, 30/57). Among CHEK2 p.I157T carriers, 43% (19/44) had myeloid malignancies, 32% (14/44) had lymphoid malignancies, and 2% (1/44) had both. Among those with other germline P/LP CHEK2 alleles, 36% (13/36) had myeloid malignancies, 28% (10/36) had lymphoid malignancies, and 6% (2/36) had both. CHEK2 p.I157T was enriched in HM patients (OR 6.44, 95%CI 3.68–10.73, P < 0.001).
In a solid tumor risk cohort, 36% (15/42) of CHEK2 p.I157T patients had a HM family history.

PMID: 39966186 Weis et al., 2025
Description of 12 patients - Brazilian women with early-stage breast cancer and CHEK2 variants (9/12 with onset before age 50yrs, and 9/12 had family history of breast cancer). 7 patients had intronic CHEK2 variants; the most common variant in this group was CHEK2: c.349A>G, p.Arg117Gly (4 patients).

PMID: 25798211 Kaczmarek-Rys et al., 2015
Polish cohort of 602 thyroid carcinoma patients and 829 controls. CHEK2 c.470 T > C (p.I157T, rs17879961) variant increases risk of thyroid carcinoma in Greater Poland population: increases the risk of developing differentiated thyroid cancer almost twice (OR = 1.81, p = 0.004), and the risk of papillary thyroid carcinoma in female patients homozygous for the c.470C allele was shown to increase almost 13-fold (OR = 12.81, p = 0.019).

CHEK2 is associated with Tumor predisposition syndrome 4, breast/prostate/colorectal, OMIM:609265 (OMIM accessed 17th Jun 2026. The association between CHEK2 and AD CHEK2-related cancer predisposition was classified as Definitive in ClinGen (Hereditary Cancer GCEP, Nov 2024).
Adult solid tumours cancer susceptibility v2.39 CHEK2 Ida Ertmanska edited their review of gene: CHEK2: Changed publications to: 25798211, 39966186, 40335619
Adult solid tumours cancer susceptibility v2.39 CHEK2 Ida Ertmanska changed review comment from: PMID: 40335619 Stubbins et al., 2025
Cohort of patients with hereditary hematopoietic malignancies. 57 probands had germline P/LP CHEK2 variants, mostly p.I157T (53%, 30/57). Among CHEK2 p.I157T carriers, 43% (19/44) had myeloid malignancies, 32% (14/44) had lymphoid malignancies, and 2% (1/44) had both. Among those with other germline P/LP CHEK2 alleles, 36% (13/36) had myeloid malignancies, 28% (10/36) had lymphoid malignancies, and 6% (2/36) had both. CHEK2 p.I157T was enriched in HM patients (OR 6.44, 95%CI 3.68–10.73, P < 0.001).
In a solid tumor risk cohort, 36% (15/42) of CHEK2 p.I157T patients had a HM family history.; to: PMID: 40335619 Stubbins et al., 2025
Cohort of patients with hereditary hematopoietic malignancies. 57 probands had germline P/LP CHEK2 variants, mostly p.I157T (53%, 30/57). Among CHEK2 p.I157T carriers, 43% (19/44) had myeloid malignancies, 32% (14/44) had lymphoid malignancies, and 2% (1/44) had both. Among those with other germline P/LP CHEK2 alleles, 36% (13/36) had myeloid malignancies, 28% (10/36) had lymphoid malignancies, and 6% (2/36) had both. CHEK2 p.I157T was enriched in HM patients (OR 6.44, 95%CI 3.68–10.73, P < 0.001).
In a solid tumor risk cohort, 36% (15/42) of CHEK2 p.I157T patients had a HM family history.

PMID: 39966186 Weis et al., 2025
Description of 12 patients - Brazilian women with early-stage breast cancer and CHEK2 variants (9/12 with onset before age 50yrs, and 9/12 had family history of breast cancer). 7 patients had intronic CHEK2 variants; the most common variant in this group was CHEK2: c.349A>G, p.Arg117Gly (4 patients).

PMID: 25798211 Kaczmarek-Rys et al., 2015
Polish cohort of 602 thyroid carcinoma patients and 829 controls. CHEK2 c.470 T > C (p.I157T, rs17879961) variant increases risk of thyroid carcinoma in Greater Poland population: increases the risk of developing differentiated thyroid cancer almost twice (OR = 1.81, p = 0.004), and the risk of papillary thyroid carcinoma in female patients homozygous for the c.470C allele was shown to increase almost 13-fold (OR = 12.81, p = 0.019).

CHEK2 is associated with Tumor predisposition syndrome 4, breast/prostate/colorectal, OMIM:609265 (OMIM accessed 17th Jun 2026.
Adult solid tumours cancer susceptibility v2.39 CHEK2 Ida Ertmanska Phenotypes for gene: CHEK2 were changed from Breast cancer to Tumor predisposition syndrome 4, breast/prostate/colorectal, OMIM:609265
Adult solid tumours cancer susceptibility v2.38 CHEK2 Ida Ertmanska Publications for gene: CHEK2 were set to
Adult solid tumours cancer susceptibility v2.37 CHEK2 Ida Ertmanska Classified gene: CHEK2 as Amber List (moderate evidence)
Adult solid tumours cancer susceptibility v2.37 CHEK2 Ida Ertmanska Added comment: Comment on list classification: There are numerous individuals reported with CHEK2 variants (most often p.Ile157Thr) and solid tumors. Hence, this gene will be suggested for promotion to Green on Adult solid tumours cancer susceptibility, with a request of expert review to determine if the gene fits into panel scope.
Adult solid tumours cancer susceptibility v2.37 CHEK2 Ida Ertmanska Gene: chek2 has been classified as Amber List (Moderate Evidence).
Adult solid tumours cancer susceptibility v2.36 CHEK2 Ida Ertmanska Mode of inheritance for gene: CHEK2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult solid tumours cancer susceptibility v2.35 CHEK2 Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: CHEK2.
Tag Q2_26_expert_review tag was added to gene: CHEK2.
Adult solid tumours cancer susceptibility v2.35 CHEK2 Ida Ertmanska reviewed gene: CHEK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 40335619; Phenotypes: Tumor predisposition syndrome 4, breast/prostate/colorectal, OMIM:609265; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult solid tumours cancer susceptibility v2.34 MUTYH Ida Ertmanska Tag Q4_25_expert_review tag was added to gene: MUTYH.
Adult solid tumours cancer susceptibility v2.34 MUTYH Ida Ertmanska Tag disputed tag was added to gene: MUTYH.
Tag Q4_25_demote_red tag was added to gene: MUTYH.
Adult solid tumours cancer susceptibility v2.34 MUTYH Ida Ertmanska commented on gene: MUTYH: Comment on list classification: The gene-disease association between MUTYH and hereditary cancers has been disputed by the ClinGen Hereditary Cancer GCEP - classified as Disputed for familial ovarian cancer (AR & AD), Disputed for AR hereditary breast carcinoma and Refuted for AD hereditary breast carcinoma, and Disputed for colorectal cancer. MUTYH is linked to familial adenomatous polyposis 2 and classified as Definitive in ClinGen. More information: https://search.clinicalgenome.org/kb/genes/HGNC:7527
Based on the available evidence, MUTYH should be demoted to Red for Adult solid tumours cancer susceptibility at the next GMS panel update.
Adult solid tumours cancer susceptibility v2.34 MUTYH Ida Ertmanska reviewed gene: MUTYH: Rating: RED; Mode of pathogenicity: None; Publications: 21063410, 24444654, 23946381, 29478780, 33309985, 33471991, 35172496; Phenotypes: Gastric cancer, somatic, OMIM:613659, Adenomas, multiple colorectal, OMIM:608456; Mode of inheritance: None
Adult solid tumours cancer susceptibility v2.34 ERCC1 Arina Puzriakova Phenotypes for gene: ERCC1 were changed from xeroderma pigmentosum, MONDO:0019600 to hepatocellular carcinoma, MONDO:0007256
Adult solid tumours cancer susceptibility v2.33 ERCC1 Arina Puzriakova Classified gene: ERCC1 as Red List (low evidence)
Adult solid tumours cancer susceptibility v2.33 ERCC1 Arina Puzriakova Added comment: Comment on list classification: Downgraded from Amber to Red as typically childhood onset. Could only identify one report (conference abstract) describing "First Report of ERCC1-Associated Adult-Onset Hepatocellular Carcinoma, Ataxia, and Cognitive Decline" due to a homozygous variant c.466 C>T, p.(Arg156Trp) in exon 4 - https://www.mdsabstracts.org/abstract/first-report-of-ercc1-associated-adult-onset-hepatocellular-carcinoma-ataxia-and-cognitive-decline/
Adult solid tumours cancer susceptibility v2.33 ERCC1 Arina Puzriakova Gene: ercc1 has been classified as Red List (Low Evidence).
Adult solid tumours cancer susceptibility v2.32 ERCC1 Arina Puzriakova Phenotypes for gene: ERCC1 were changed from Xeroderma Pigmentosa to xeroderma pigmentosum, MONDO:0019600
Adult solid tumours cancer susceptibility v2.31 ERCC1 Arina Puzriakova Phenotypes for gene: ERCC1 were changed from Xeroderma Pigmentosa; Cerebrooculofacioskeletal syndrome 4, 610758 to Xeroderma Pigmentosa
Adult solid tumours cancer susceptibility v2.30 CDH1 Arina Puzriakova Phenotypes for gene: CDH1 were changed from Hereditary Diffuse Gastric Cancer, Familial Lobular Breast Cancer to Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate, OMIM:137215
Adult solid tumours cancer susceptibility v2.29 TERC Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: TERC.
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