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Inherited ovarian cancer (without breast cancer) v4.9 Arina Puzriakova Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Inherited ovarian cancer (without breast cancer) v4.8 LLGL2 Arina Puzriakova Tag Q2_25_ promote_green was removed from gene: LLGL2.
Tag Q2_25_ NHS_review was removed from gene: LLGL2.
Tag to_be_confirmed_NHSE tag was added to gene: LLGL2.
Inherited ovarian cancer (without breast cancer) v4.8 LLGL2 Arina Puzriakova commented on gene: LLGL2
Inherited ovarian cancer (without breast cancer) v4.7 CDH1 Arina Puzriakova Phenotypes for gene: CDH1 were changed from Endometrial carcinoma, somatic, 608089; Ovarian carcinoma, somatic, 167000; {Breast cancer, lobular}, 114480; Gastric cancer, familial diffuse, with or without cleft lip and/or palate, 137215; {Prostate cancer, susceptibility to}, 176807; High Risk Breast Cancer; Breast and Ovarian Cancer to Ovarian cancer, somatic, OMIM:167000
Inherited ovarian cancer (without breast cancer) v4.6 BARD1 Arina Puzriakova Phenotypes for gene: BARD1 were changed from {Breast cancer, susceptibility to}, 114480; Breast Cancer to {Breast cancer, susceptibility to}, OMIM:114480
Inherited ovarian cancer (without breast cancer) v4.5 BARD1 Arina Puzriakova Mode of inheritance for gene: BARD1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inherited ovarian cancer (without breast cancer) v4.4 LLGL2 Sarah Leigh Tag Q2_25_ promote_green tag was added to gene: LLGL2.
Tag Q2_25_ NHS_review tag was added to gene: LLGL2.
Inherited ovarian cancer (without breast cancer) v4.4 LLGL2 Sarah Leigh reviewed gene: LLGL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: High-grade serous ovarian carcinoma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited ovarian cancer (without breast cancer) v4.4 LLGL2 Sarah Leigh Classified gene: LLGL2 as Amber List (moderate evidence)
Inherited ovarian cancer (without breast cancer) v4.4 LLGL2 Sarah Leigh Gene: llgl2 has been classified as Amber List (Moderate Evidence).
Inherited ovarian cancer (without breast cancer) v4.3 LLGL2 Riyaad Aungraheeta gene: LLGL2 was added
gene: LLGL2 was added to Inherited ovarian cancer (without breast cancer). Sources: Literature
Mode of inheritance for gene: LLGL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LLGL2 were set to 39794353
Phenotypes for gene: LLGL2 were set to High-grade serous ovarian carcinoma
Penetrance for gene: LLGL2 were set to unknown
Review for gene: LLGL2 was set to AMBER
Added comment: Sources: Literature
Inherited ovarian cancer (without breast cancer) v4.1 Arina Puzriakova Panel version 4.0 has been signed off on 2023-03-22
Inherited ovarian cancer (without breast cancer) v4.0 Arina Puzriakova promoted panel to version 4.0
Inherited ovarian cancer (without breast cancer) v3.3 BRCA1 Arina Puzriakova Tag Q2_22_MOI was removed from gene: BRCA1.
Tag Q2_22_expert_review was removed from gene: BRCA1.
Inherited ovarian cancer (without breast cancer) v3.3 BRCA1 Arina Puzriakova commented on gene: BRCA1: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Inherited ovarian cancer (without breast cancer) v3.2 BRCA1 Arina Puzriakova Mode of inheritance for gene BRCA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Inherited ovarian cancer (without breast cancer) v3.1 Eleanor Williams Panel version 3.0 has been signed off on 2022-11-30
Inherited ovarian cancer (without breast cancer) v3.0 Eleanor Williams promoted panel to version 3.0
Inherited ovarian cancer (without breast cancer) v2.28 BRIP1 Sarah Leigh changed review comment from: Comment on phenotypes: Association of BRIP1 and breast cancer has been refuted (https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9910)
{Breast cancer, early-onset, susceptibility to}, OMIM:114480;Hereditary breast carcinoma, MONDO:0016419; to: Comment on phenotypes: Association of BRIP1 and breast cancer has been refuted (https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9910)
{Breast cancer, early-onset, susceptibility to}, OMIM:114480;Hereditary breast carcinoma, MONDO:0016419. However, in PMID:31822495 they report very rare BRIP1 missense germline variants (minor allele frequency < 0.0001) in nearly 2% of 2,160 early-onset breast cancer and 1,199 ovarian cancer patients. Functional studies on 20 of these variants revealed 75% resulted in protein hypomorph or null products. The authors also reported that in a clinical cohort of >117,000 breast and ovarian cancer patients, the combined odds ratio associated with BRIP1 hypomorph or null missense carriers compared to the general population was 2.30 (95%CI=1.60-3.30, p<0.0001).
Inherited ovarian cancer (without breast cancer) v2.28 BRIP1 Sarah Leigh changed review comment from: Comment on phenotypes: Association of BRIP1 and breast cancer has been refuted (https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9910)
{Breast cancer, early-onset, susceptibility to}, OMIM:114480;Hereditary breast carcinoma, MONDO:0016419; to: Comment on phenotypes: Association of BRIP1 and breast cancer has been refuted (https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9910)
{Breast cancer, early-onset, susceptibility to}, OMIM:114480;Hereditary breast carcinoma, MONDO:0016419
Inherited ovarian cancer (without breast cancer) v2.28 BRIP1 Sarah Leigh Publications for gene: BRIP1 were set to 26315354; 21964575; 29661970
Inherited ovarian cancer (without breast cancer) v2.27 BRIP1 Sarah Leigh Phenotypes for gene: BRIP1 were changed from ovarian epithelial tumor, MONDO:0002229 to familial ovarian cancer, MONDO:0016248
Inherited ovarian cancer (without breast cancer) v2.26 BRIP1 Sarah Leigh Added comment: Comment on phenotypes: Association of BRIP1 and breast cancer has been refuted (https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9910)
{Breast cancer, early-onset, susceptibility to}, OMIM:114480;Hereditary breast carcinoma, MONDO:0016419
Inherited ovarian cancer (without breast cancer) v2.26 BRIP1 Sarah Leigh Phenotypes for gene: BRIP1 were changed from {Breast cancer, early-onset, susceptibility to}, OMIM:114480; Hereditary breast carcinoma, MONDO:0016419 to ovarian epithelial tumor, MONDO:0002229
Inherited ovarian cancer (without breast cancer) v2.25 BRCA1 Arina Puzriakova Tag Q2_22_MOI tag was added to gene: BRCA1.
Tag Q2_22_expert_review tag was added to gene: BRCA1.
Inherited ovarian cancer (without breast cancer) v2.25 BRCA1 Arina Puzriakova Added comment: Comment on mode of inheritance: Although more rare, biallelic BRCA1 variants have been shown to also confer breast and ovarian cancer susceptibility (with or without FA‐like features), and multiple such cases have been reported worldwide (PMIDs: 23269703; 25472942; 31347298; 33477375). There are at least two unrelated individuals in literature who were diagnosed with ovarian carcinoma in association with biallelic germline BRCA1 variants.

This may warrant an MOI change from 'monoallelic' to 'both mono- and biallelic' to ensure these rarer cases are not missed; however this will be flagged for further review to confirm whether the GMS expert group agrees with the change.
Inherited ovarian cancer (without breast cancer) v2.25 BRCA1 Arina Puzriakova Mode of inheritance for gene: BRCA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inherited ovarian cancer (without breast cancer) v2.24 PALB2 Arina Puzriakova Tag for-review was removed from gene: PALB2.
Inherited ovarian cancer (without breast cancer) v2.24 PALB2 Arina Puzriakova edited their review of gene: PALB2: Added comment: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It was agreed that there is enough evidence to rate this gene as Green.; Changed rating: GREEN
Inherited ovarian cancer (without breast cancer) v2.23 PALB2 Arina Puzriakova Source Expert Review Green was added to PALB2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Inherited ovarian cancer (without breast cancer) v2.22 AR Arina Puzriakova Phenotypes for gene: AR were changed from Androgen insensitivity, 300068; Spinal and bulbar muscular atrophy of Kennedy, 313200; Androgen insensitivity, partial, with or without breast cancer, 312300; {Prostate cancer, susceptibility to}, 176807; Hypospadias 1, X-linked, 300633 to Androgen insensitivity, OMIM:300068; Androgen insensitivity, partial, with or without breast cancer, OMIM:312300
Inherited ovarian cancer (without breast cancer) v2.21 ATM Arina Puzriakova Phenotypes for gene: ATM were changed from Ataxia-telangiectasia, 208900; Lymphoma, B-cell non-Hodgkin, somatic; {Breast cancer, susceptibility to}, 114480; Lymphoma, mantle cell; T-cell prolymphocytic leukemia, somatic; Breast and Ovarian Cancer to {Breast cancer, susceptibility to}, OMIM:114480
Inherited ovarian cancer (without breast cancer) v2.20 MLH1 Arina Puzriakova changed review comment from: Comment on phenotypes: This gene is also associated with Colorectal cancer, hereditary nonpolyposis, type 2 (MIM# 6093100; Mismatch repair cancer syndrome 1 (MIM# 276300); Muir-Torre syndrome (MIM# 158320); to: Comment on phenotypes: This gene is also associated with Colorectal cancer, hereditary nonpolyposis, type 2 (MIM# 609310); Mismatch repair cancer syndrome 1 (MIM# 276300); Muir-Torre syndrome (MIM# 158320)
Inherited ovarian cancer (without breast cancer) v2.20 BRCA2 Arina Puzriakova changed review comment from: Comment on phenotypes: This gene is also associated with {Breast cancer, male, susceptibility to} (MIM# 114480); Prostate cancer (MIM# 176807); Wilms tumor (MIM# 194070); {Medulloblastoma} (MIM# 155255); {Glioblastoma 3} (MIM# 613029); Fanconi anemia, complementation group D1 (MIM# 605724); to: Comment on phenotypes: This gene is also associated with {Breast cancer, male, susceptibility to} (MIM# 114480); Prostate cancer (MIM# 176807); {Pancreatic cancer 2} (MIM# 613347); Wilms tumor (MIM# 194070); {Medulloblastoma} (MIM# 155255); {Glioblastoma 3} (MIM# 613029); Fanconi anemia, complementation group D1 (MIM# 605724)
Inherited ovarian cancer (without breast cancer) v2.20 PMS2 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Colorectal cancer, hereditary nonpolyposis, type 4 (MIM# 614337); Mismatch repair cancer syndrome 4 (MIM# 619101)
Inherited ovarian cancer (without breast cancer) v2.20 PMS2 Arina Puzriakova Phenotypes for gene: PMS2 were changed from Breast and Ovarian Cancer to Ovarian cancer, MONDO:0008170
Inherited ovarian cancer (without breast cancer) v2.19 RAD51D Arina Puzriakova Phenotypes for gene: RAD51D were changed from {Breast-ovarian cancer, familial, susceptibility to, 4}, 614291; Breast and Ovarian Cancer; Breast and Ovarian Cancer Susceptibility to {Breast-ovarian cancer, familial, susceptibility to, 4}, OMIM:614291; Breast-ovarian cancer, familial, susceptibility to, 4, MONDO:0013669
Inherited ovarian cancer (without breast cancer) v2.18 RAD51D Arina Puzriakova Publications for gene: RAD51D were set to
Inherited ovarian cancer (without breast cancer) v2.17 RAD51C Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Fanconi anemia, complementation group O (MIM# 613390)
Inherited ovarian cancer (without breast cancer) v2.17 RAD51C Arina Puzriakova Phenotypes for gene: RAD51C were changed from Fanconi anemia, complementation group O, 613390; {Breast-ovarian cancer, familial, susceptibility to, 3}, 613399; Breast and Ovarian Cancer; Breast and Ovarian Cancer Susceptibility to {Breast-ovarian cancer, familial, susceptibility to, 3}, OMIM:613399; Breast-ovarian cancer, familial, susceptibility to, 3, MONDO:0013253
Inherited ovarian cancer (without breast cancer) v2.16 RAD51C Arina Puzriakova Publications for gene: RAD51C were set to
Inherited ovarian cancer (without breast cancer) v2.15 MSH6 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Endometrial cancer, familial} (MIM# 608089); Colorectal cancer, hereditary nonpolyposis, type 5 (MIM# 614350); Mismatch repair cancer syndrome 2 (MIM# 619097)
Inherited ovarian cancer (without breast cancer) v2.15 MSH6 Arina Puzriakova Phenotypes for gene: MSH6 were changed from Breast and Ovarian Cancer to Ovarian cancer, MONDO:0008170
Inherited ovarian cancer (without breast cancer) v2.14 MSH6 Arina Puzriakova Publications for gene: MSH6 were set to
Inherited ovarian cancer (without breast cancer) v2.13 MSH2 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Colorectal cancer, hereditary nonpolyposis, type 1 (MIM# 120435); Mismatch repair cancer syndrome 2 (MIM# 619096); Muir-Torre syndrome (MIM# 158320)
Inherited ovarian cancer (without breast cancer) v2.13 MSH2 Arina Puzriakova Phenotypes for gene: MSH2 were changed from Breast and Ovarian Cancer to Ovarian cancer, MONDO:0008170
Inherited ovarian cancer (without breast cancer) v2.12 MSH2 Arina Puzriakova Publications for gene: MSH2 were set to
Inherited ovarian cancer (without breast cancer) v2.11 MLH1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Colorectal cancer, hereditary nonpolyposis, type 2 (MIM# 6093100; Mismatch repair cancer syndrome 1 (MIM# 276300); Muir-Torre syndrome (MIM# 158320)
Inherited ovarian cancer (without breast cancer) v2.11 MLH1 Arina Puzriakova Phenotypes for gene: MLH1 were changed from Adult Glioma; Colorectal; Endometrial Carcinoma; Hepatopancreatobiliary; Ovarian to Ovarian cancer, MONDO:0008170
Inherited ovarian cancer (without breast cancer) v2.10 MLH1 Arina Puzriakova Publications for gene: MLH1 were set to
Inherited ovarian cancer (without breast cancer) v2.9 BRIP1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Fanconi anemia, complementation group J (MIM# 609054)
Inherited ovarian cancer (without breast cancer) v2.9 BRIP1 Arina Puzriakova Phenotypes for gene: BRIP1 were changed from ?Breast cancer, early-onset, 114480; Fanconi anemia, complementation group J, 609054; Breast and Ovarian Cancer; Breast Cancer to {Breast cancer, early-onset, susceptibility to}, OMIM:114480; Hereditary breast carcinoma, MONDO:0016419
Inherited ovarian cancer (without breast cancer) v2.8 BRIP1 Arina Puzriakova Publications for gene: BRIP1 were set to
Inherited ovarian cancer (without breast cancer) v2.7 BRCA2 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Breast cancer, male, susceptibility to} (MIM# 114480); Prostate cancer (MIM# 176807); Wilms tumor (MIM# 194070); {Medulloblastoma} (MIM# 155255); {Glioblastoma 3} (MIM# 613029); Fanconi anemia, complementation group D1 (MIM# 605724)
Inherited ovarian cancer (without breast cancer) v2.7 BRCA2 Arina Puzriakova Phenotypes for gene: BRCA2 were changed from {Breast-ovarian cancer, familial, 2}, 612555; Fanconi anemia, complementation group D1, 605724; Prostate cancer, 176807; {Breast cancer, male, susceptibility to}, 114480; Wilms tumor, 194070; {Medulloblastoma}, 155255; {Glioblastoma 3},; Hereditary Breast and Ovarian Cancer ; Hereditary Breast and Ovarian Cancer Syndrome; Breast and Ovarian Cancer; High Risk Breast Cancer ; Breast cancer to {Breast-ovarian cancer, familial, 2}, OMIM:612555; Hereditary breast ovarian cancer syndrome, MONDO:0003582
Inherited ovarian cancer (without breast cancer) v2.6 BRCA1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with 'Pancreatic cancer, susceptibility to, 4' (MIM# 614320) and 'Fanconi anemia, complementation group S' (MIM# 617883)
Inherited ovarian cancer (without breast cancer) v2.6 BRCA1 Arina Puzriakova Phenotypes for gene: BRCA1 were changed from {Breast-ovarian cancer, familial, 1}, 604370; {Pancreatic cancer, susceptibility to, 4}, 614320; Hereditary Breast and Ovarian Cancer ; Hereditary Breast and Ovarian Cancer Syndrome; Breast and Ovarian Cancer; High Risk Breast Cancer ; Breast cancer to {Breast-ovarian cancer, familial, 1}, OMIM:604370; Hereditary breast ovarian cancer syndrome, MONDO:0003582
Inherited ovarian cancer (without breast cancer) v2.5 PALB2 Arina Puzriakova Tag for-review tag was added to gene: PALB2.
Inherited ovarian cancer (without breast cancer) v2.5 PALB2 Arina Puzriakova changed review comment from: Comment on list classification: Kept rating Red, as it remains unclear whether the risk is sufficiently high to warrant the inclusion of PALB2 in the ovarian cancer gene panel.; to: Comment on list classification: Kept rating Red, but this gene will be flagged for review (added 'for-review' tag) at the next GMS panel update to assess whether the risk is sufficiently high to warrant inclusion of PALB2 on the ovarian cancer gene panel in the context of two recent publications (PMIDs: 31841383 and 32546565) identified by the expert reviewer.
Inherited ovarian cancer (without breast cancer) v2.5 PALB2 marc tischkowitz commented on gene: PALB2: From the key paper (Yang 2020):
Table 3 - 16% risk to age 80 ( 95% CI 8-28%) if 2 first degree relatives affected at age 50, 11% risk to age 80 (95% CI 6-21) if mother and maternal grandmother diagnosed at age 50.

Therefore clinically actionable if there is a strong family history.

This paper and that of Song 2020 supersede previous published studies which are based on many fewer cases.
Inherited ovarian cancer (without breast cancer) v2.5 PALB2 Arina Puzriakova Publications for gene: PALB2 were set to
Inherited ovarian cancer (without breast cancer) v2.4 PALB2 Arina Puzriakova Classified gene: PALB2 as Red List (low evidence)
Inherited ovarian cancer (without breast cancer) v2.4 PALB2 Arina Puzriakova Added comment: Comment on list classification: Kept rating Red, as it remains unclear whether the risk is sufficiently high to warrant the inclusion of PALB2 in the ovarian cancer gene panel.
Inherited ovarian cancer (without breast cancer) v2.4 PALB2 Arina Puzriakova Gene: palb2 has been classified as Red List (Low Evidence).
Inherited ovarian cancer (without breast cancer) v2.3 PALB2 Arina Puzriakova reviewed gene: PALB2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inherited ovarian cancer (without breast cancer) v2.3 PALB2 marc tischkowitz reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 31841383: PMID: 32546565; Phenotypes: breast cancer, ovarian cancer, pancreatic cancer; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Inherited ovarian cancer (without breast cancer) v2.3 Catherine Snow Panel version has been signed off
Inherited ovarian cancer (without breast cancer) v2.0 Ivone Leong promoted panel to version 2.0
Inherited ovarian cancer (without breast cancer) v1.10 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease; GMS signed-off
Inherited ovarian cancer (without breast cancer) v1.9 PMS2 Ivone Leong commented on gene: PMS2
Inherited ovarian cancer (without breast cancer) v1.9 RAD51D Ivone Leong commented on gene: RAD51D
Inherited ovarian cancer (without breast cancer) v1.9 RAD51C Ivone Leong commented on gene: RAD51C
Inherited ovarian cancer (without breast cancer) v1.9 MSH6 Ivone Leong commented on gene: MSH6
Inherited ovarian cancer (without breast cancer) v1.9 MSH2 Ivone Leong commented on gene: MSH2
Inherited ovarian cancer (without breast cancer) v1.9 MLH1 Ivone Leong commented on gene: MLH1
Inherited ovarian cancer (without breast cancer) v1.9 BRIP1 Ivone Leong commented on gene: BRIP1
Inherited ovarian cancer (without breast cancer) v1.9 BRCA2 Ivone Leong commented on gene: BRCA2
Inherited ovarian cancer (without breast cancer) v1.9 BRCA1 Ivone Leong commented on gene: BRCA1
Inherited ovarian cancer (without breast cancer) v1.9 Ivone Leong List of related panels changed from Familial ovarian cancer to Familial ovarian cancer; R207
Inherited ovarian cancer (without breast cancer) v1.7 BRCA2 Ivone Leong Publications for gene: BRCA2 were set to
Inherited ovarian cancer (without breast cancer) v1.6 BRCA1 Ivone Leong Publications for gene: BRCA1 were set to
Inherited ovarian cancer (without breast cancer) v1.5 RAD51D Rachel Robinson reviewed gene: RAD51D: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited ovarian cancer (without breast cancer) v1.5 RAD51C Rachel Robinson reviewed gene: RAD51C: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited ovarian cancer (without breast cancer) v1.5 MSH6 Rachel Robinson reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited ovarian cancer (without breast cancer) v1.5 MSH2 Rachel Robinson reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited ovarian cancer (without breast cancer) v1.5 MLH1 Rachel Robinson reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited ovarian cancer (without breast cancer) v1.5 BRIP1 Rachel Robinson reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited ovarian cancer (without breast cancer) v1.5 BRCA2 Rachel Robinson reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited ovarian cancer (without breast cancer) v1.5 BRCA1 Rachel Robinson reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited ovarian cancer (without breast cancer) v1.5 PMS2 Lara Hawkes reviewed gene: PMS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited ovarian cancer (without breast cancer) v1.5 RAD51D Lara Hawkes reviewed gene: RAD51D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited ovarian cancer (without breast cancer) v1.5 RAD51C Lara Hawkes reviewed gene: RAD51C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited ovarian cancer (without breast cancer) v1.5 MSH6 Lara Hawkes reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited ovarian cancer (without breast cancer) v1.5 MSH2 Lara Hawkes reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited ovarian cancer (without breast cancer) v1.5 MLH1 Lara Hawkes reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited ovarian cancer (without breast cancer) v1.5 BRIP1 Lara Hawkes reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited ovarian cancer (without breast cancer) v1.5 BRCA2 Lara Hawkes reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited ovarian cancer (without breast cancer) v1.5 BRCA1 Lara Hawkes reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited ovarian cancer (without breast cancer) v1.4 PMS2 Ivone Leong Source Expert List was added to PMS2.
Inherited ovarian cancer (without breast cancer) v1.4 RAD51D Ivone Leong Source Expert List was added to RAD51D.
Source NHS GMS was added to RAD51D.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Inherited ovarian cancer (without breast cancer) v1.4 RAD51C Ivone Leong Source Expert List was added to RAD51C.
Source NHS GMS was added to RAD51C.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Inherited ovarian cancer (without breast cancer) v1.4 MSH6 Ivone Leong Source Expert List was added to MSH6.
Source NHS GMS was added to MSH6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Inherited ovarian cancer (without breast cancer) v1.4 MSH2 Ivone Leong Source Expert List was added to MSH2.
Source NHS GMS was added to MSH2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Inherited ovarian cancer (without breast cancer) v1.4 MLH1 Ivone Leong Source Expert List was added to MLH1.
Source NHS GMS was added to MLH1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Inherited ovarian cancer (without breast cancer) v1.4 BRIP1 Ivone Leong Source Expert List was added to BRIP1.
Source NHS GMS was added to BRIP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Inherited ovarian cancer (without breast cancer) v1.4 BRCA2 Ivone Leong Source Expert List was added to BRCA2.
Source NHS GMS was added to BRCA2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Inherited ovarian cancer (without breast cancer) v1.4 BRCA1 Ivone Leong Source Expert List was added to BRCA1.
Source NHS GMS was added to BRCA1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Inherited ovarian cancer (without breast cancer) v1.2 Ellen McDonagh Panel name changed from Familial ovarian cancer to Inherited ovarian cancer (without breast cancer)
List of related panels changed from to Familial ovarian cancer
Panel types changed to Rare Disease 100K; GMS Rare Disease
Inherited ovarian cancer (without breast cancer) RAD51D Treena Cranston reviewed RAD51D
Inherited ovarian cancer (without breast cancer) RAD51C Treena Cranston reviewed RAD51C
Inherited ovarian cancer (without breast cancer) MSH6 Treena Cranston reviewed MSH6
Inherited ovarian cancer (without breast cancer) MSH2 Treena Cranston reviewed MSH2
Inherited ovarian cancer (without breast cancer) MLH1 Treena Cranston reviewed MLH1
Inherited ovarian cancer (without breast cancer) BRIP1 Treena Cranston reviewed BRIP1
Inherited ovarian cancer (without breast cancer) BRCA2 Treena Cranston reviewed BRCA2
Inherited ovarian cancer (without breast cancer) BRCA1 Treena Cranston reviewed BRCA1
Inherited ovarian cancer (without breast cancer) Ellen McDonagh promoted panel to version 1
Inherited ovarian cancer (without breast cancer) PMS2 Ellen McDonagh commented on PMS2
Inherited ovarian cancer (without breast cancer) PMS2 Ellen McDonagh classified PMS2 as amber
Inherited ovarian cancer (without breast cancer) MSH2 Ellen McDonagh marked MSH2 as ready
Inherited ovarian cancer (without breast cancer) MSH2 Ellen McDonagh marked MSH2 as ready
Inherited ovarian cancer (without breast cancer) MSH6 Ellen McDonagh marked MSH6 as ready
Inherited ovarian cancer (without breast cancer) RAD51C Ellen McDonagh marked RAD51C as ready
Inherited ovarian cancer (without breast cancer) RAD51D Ellen McDonagh marked RAD51D as ready
Inherited ovarian cancer (without breast cancer) RAD51D Ellen McDonagh classified RAD51D as green
Inherited ovarian cancer (without breast cancer) RAD51D Ellen McDonagh commented on RAD51D
Inherited ovarian cancer (without breast cancer) RAD51C Ellen McDonagh classified RAD51C as green
Inherited ovarian cancer (without breast cancer) RAD51C Ellen McDonagh commented on RAD51C
Inherited ovarian cancer (without breast cancer) MSH6 Ellen McDonagh classified MSH6 as green
Inherited ovarian cancer (without breast cancer) MSH2 Ellen McDonagh classified MSH2 as green
Inherited ovarian cancer (without breast cancer) MLH1 Ellen McDonagh classified MLH1 as green
Inherited ovarian cancer (without breast cancer) BRCA1 Ellen McDonagh classified BRCA1 as green
Inherited ovarian cancer (without breast cancer) MSH6 Ellen McDonagh classified MSH6 as green
Inherited ovarian cancer (without breast cancer) MSH6 Ellen McDonagh commented on MSH6
Inherited ovarian cancer (without breast cancer) MSH2 Ellen McDonagh classified MSH2 as green
Inherited ovarian cancer (without breast cancer) MSH2 Ellen McDonagh commented on MSH2
Inherited ovarian cancer (without breast cancer) MLH1 Ellen McDonagh marked MLH1 as ready
Inherited ovarian cancer (without breast cancer) MLH1 Ellen McDonagh classified MLH1 as green
Inherited ovarian cancer (without breast cancer) MLH1 Ellen McDonagh commented on MLH1
Inherited ovarian cancer (without breast cancer) BRIP1 Ellen McDonagh marked BRIP1 as ready
Inherited ovarian cancer (without breast cancer) BRCA2 Ellen McDonagh marked BRCA2 as ready
Inherited ovarian cancer (without breast cancer) BRCA2 Ellen McDonagh classified BRCA2 as green
Inherited ovarian cancer (without breast cancer) BRCA2 Ellen McDonagh commented on BRCA2
Inherited ovarian cancer (without breast cancer) BRCA1 Ellen McDonagh classified BRCA1 as green
Inherited ovarian cancer (without breast cancer) BRCA1 Ellen McDonagh commented on BRCA1
Inherited ovarian cancer (without breast cancer) MSH2 Clare Turnbull reviewed MSH2
Inherited ovarian cancer (without breast cancer) BRCA2 Clare Turnbull reviewed BRCA2
Inherited ovarian cancer (without breast cancer) Ellen McDonagh approved panel
Inherited ovarian cancer (without breast cancer) TP53 Ellen McDonagh classified TP53 as red
Inherited ovarian cancer (without breast cancer) BRCA2 Ellen McDonagh classified BRCA2 as red
Inherited ovarian cancer (without breast cancer) BRCA1 Ellen McDonagh classified BRCA1 as red