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Inherited pancreatic cancer v2.1 Eleanor Williams Panel version 2.0 has been signed off on 2022-11-30
Inherited pancreatic cancer v2.0 Eleanor Williams promoted panel to version 2.0
Inherited pancreatic cancer v1.20 BRCA1 Arina Puzriakova edited their review of gene: BRCA1: Added comment: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Inherited pancreatic cancer v1.19 BRCA1 Arina Puzriakova Source Expert Review Green was added to BRCA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Inherited pancreatic cancer v1.18 CDKN2A Arina Puzriakova Publications for gene: CDKN2A were set to 30558719
Inherited pancreatic cancer v1.17 STK11 Arina Puzriakova Phenotypes for gene: STK11 were changed from to Pancreatic cancer, somatic, OMIM:260350
Inherited pancreatic cancer v1.16 RABL3 Arina Puzriakova Phenotypes for gene: RABL3 were changed from Hereditary pancreatic cancer to {?Pancreatic cancer, susceptibility to, 5}, OMIM:618680; Pancreatic cancer, susceptibility to, 5, MONDO:0032867
Inherited pancreatic cancer v1.15 PRSS1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Pancreatitis, hereditary (MIM#167800)
Inherited pancreatic cancer v1.15 PRSS1 Arina Puzriakova Phenotypes for gene: PRSS1 were changed from to Malignant pancreatic neoplasm, MONDO:0009831
Inherited pancreatic cancer v1.14 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 pancreatic cancer v1.14 PMS2 Arina Puzriakova Phenotypes for gene: PMS2 were changed from to Malignant pancreatic neoplasm, MONDO:0009831
Inherited pancreatic cancer v1.13 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 pancreatic cancer v1.13 MSH6 Arina Puzriakova Phenotypes for gene: MSH6 were changed from to Malignant pancreatic neoplasm, MONDO:0009831
Inherited pancreatic cancer v1.12 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 pancreatic cancer v1.12 MSH2 Arina Puzriakova Phenotypes for gene: MSH2 were changed from to Malignant pancreatic neoplasm, MONDO:0009831
Inherited pancreatic cancer v1.11 MLH1 Arina Puzriakova Added comment: Comment on phenotypes: 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 pancreatic cancer v1.11 MLH1 Arina Puzriakova Phenotypes for gene: MLH1 were changed from to Malignant pancreatic neoplasm, MONDO:0009831
Inherited pancreatic cancer v1.10 CDK4 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Melanoma, cutaneous malignant, 3} (MIM# 609048)
Inherited pancreatic cancer v1.10 CDK4 Arina Puzriakova Phenotypes for gene: CDK4 were changed from to Malignant pancreatic neoplasm, MONDO:0009831
Inherited pancreatic cancer v1.9 CDK4 Arina Puzriakova Mode of pathogenicity for gene: CDK4 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Inherited pancreatic cancer v1.8 BRCA1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Breast-ovarian cancer, familial, 1} (MIM# 604370) and Fanconi anemia, complementation group S (MIM# 617883)
Inherited pancreatic cancer v1.8 BRCA1 Arina Puzriakova Phenotypes for gene: BRCA1 were changed from to {Pancreatic cancer, susceptibility to, 4}, OMIM:614320; Pancreatic cancer, susceptibility to, 4, MONDO:0013685
Inherited pancreatic cancer v1.7 PALB2 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Breast cancer, susceptibility to} (MIM# 114480) and Fanconi anemia, complementation group N (MIM# 610832)
Inherited pancreatic cancer v1.7 PALB2 Arina Puzriakova Phenotypes for gene: PALB2 were changed from to {Pancreatic cancer, susceptibility to, 3}, OMIM:613348; Pancreatic cancer, susceptibility to, 3, MONDO:0013236
Inherited pancreatic cancer v1.6 CDKN2A Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Melanoma and neural system tumor syndrome} (MIM# 155755) and {Melanoma, cutaneous malignant, 2} (MIM# 155601)
Inherited pancreatic cancer v1.6 CDKN2A Arina Puzriakova Phenotypes for gene: CDKN2A were changed from to {Melanoma-pancreatic cancer syndrome}, OMIM:606719; Melanoma-pancreatic cancer syndrome, MONDO:0011713
Inherited pancreatic cancer v1.5 BRCA2 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Breast-ovarian cancer, familial, 2} (MIM# 612555); {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 pancreatic cancer v1.5 BRCA2 Arina Puzriakova Phenotypes for gene: BRCA2 were changed from to {Pancreatic cancer 2}, OMIM:613347; Pancreatic cancer, susceptibility to, 2, MONDO:0013235
Inherited pancreatic cancer v1.3 Catherine Snow Panel version has been signed off
Inherited pancreatic cancer v1.1 RABL3 Ivone Leong gene: RABL3 was added
gene: RABL3 was added to Inherited pancreatic cancer. Sources: Literature
Mode of inheritance for gene: RABL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RABL3 were set to 31406347
Phenotypes for gene: RABL3 were set to Hereditary pancreatic cancer
Review for gene: RABL3 was set to AMBER
Added comment: PMID: 31406347 describes a family with heterozygous variant in the RABL3 gene that causes a premature nonsense mutation. The family has multiple cases of pancreatic ductal adenocarcinoma. Sanger sequencing of the affected family showed significant co-segregation of the variant with cancer. Heterozygous knockdown of the rabl3 gene in zebrafish show increased susceptibility to cancer formation.
Sources: Literature
Inherited pancreatic cancer v1.0 Rebecca Foulger promoted panel to version 1.0
Inherited pancreatic cancer v0.42 STK11 Rebecca Foulger Publications for gene: STK11 were set to
Inherited pancreatic cancer v0.41 PRSS1 Rebecca Foulger Publications for gene: PRSS1 were set to
Inherited pancreatic cancer v0.40 PMS2 Rebecca Foulger Publications for gene: PMS2 were set to
Inherited pancreatic cancer v0.39 MSH6 Rebecca Foulger Publications for gene: MSH6 were set to
Inherited pancreatic cancer v0.38 MSH2 Rebecca Foulger Publications for gene: MSH2 were set to
Inherited pancreatic cancer v0.37 MLH1 Rebecca Foulger Publications for gene: MLH1 were set to
Inherited pancreatic cancer v0.36 CDK4 Rebecca Foulger Publications for gene: CDK4 were set to
Inherited pancreatic cancer v0.35 BRCA1 Rebecca Foulger Publications for gene: BRCA1 were set to
Inherited pancreatic cancer v0.34 PALB2 Rebecca Foulger Publications for gene: PALB2 were set to
Inherited pancreatic cancer v0.33 CDKN2A Rebecca Foulger Publications for gene: CDKN2A were set to
Inherited pancreatic cancer v0.32 BRCA2 Rebecca Foulger Publications for gene: BRCA2 were set to
Inherited pancreatic cancer v0.31 Rebecca Foulger Panel types changed to GMS Rare Disease; GMS signed-off
Inherited pancreatic cancer v0.29 Ivone Leong List of related panels changed from to R367
Inherited pancreatic cancer v0.28 STK11 Ivone Leong Classified gene: STK11 as Red List (low evidence)
Inherited pancreatic cancer v0.28 STK11 Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated red.
Inherited pancreatic cancer v0.28 STK11 Ivone Leong Gene: stk11 has been classified as Red List (Low Evidence).
Inherited pancreatic cancer v0.27 CDK4 Ivone Leong Classified gene: CDK4 as Amber List (moderate evidence)
Inherited pancreatic cancer v0.27 CDK4 Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.
Inherited pancreatic cancer v0.27 CDK4 Ivone Leong Gene: cdk4 has been classified as Amber List (Moderate Evidence).
Inherited pancreatic cancer v0.26 PRSS1 Anna de Burca Classified gene: PRSS1 as Amber List (moderate evidence)
Inherited pancreatic cancer v0.26 PRSS1 Anna de Burca Gene: prss1 has been classified as Amber List (Moderate Evidence).
Inherited pancreatic cancer v0.25 PRSS1 Ivone Leong Mode of inheritance for gene: PRSS1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited pancreatic cancer v0.24 PMS2 Ivone Leong Mode of inheritance for gene: PMS2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited pancreatic cancer v0.23 MSH6 Ivone Leong Mode of inheritance for gene: MSH6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited pancreatic cancer v0.22 MSH2 Ivone Leong Mode of inheritance for gene: MSH2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited pancreatic cancer v0.21 MLH1 Ivone Leong Mode of inheritance for gene: MLH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited pancreatic cancer v0.20 BRCA1 Ivone Leong Mode of inheritance for gene: BRCA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited pancreatic cancer v0.19 STK11 Ivone Leong Mode of inheritance for gene: STK11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited pancreatic cancer v0.18 PALB2 Ivone Leong Mode of inheritance for gene: PALB2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited pancreatic cancer v0.17 CDKN2A Ivone Leong Mode of inheritance for gene: CDKN2A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited pancreatic cancer v0.16 CDK4 Ivone Leong Mode of inheritance for gene: CDK4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited pancreatic cancer v0.15 BRCA2 Ivone Leong Mode of inheritance for gene: BRCA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited pancreatic cancer v0.13 STK11 Ivone Leong Classified gene: STK11 as Green List (high evidence)
Inherited pancreatic cancer v0.13 STK11 Ivone Leong Gene: stk11 has been classified as Green List (High Evidence).
Inherited pancreatic cancer v0.12 PMS2 Ivone Leong Classified gene: PMS2 as Amber List (moderate evidence)
Inherited pancreatic cancer v0.12 PMS2 Ivone Leong Gene: pms2 has been classified as Amber List (Moderate Evidence).
Inherited pancreatic cancer v0.11 PALB2 Ivone Leong Classified gene: PALB2 as Green List (high evidence)
Inherited pancreatic cancer v0.11 PALB2 Ivone Leong Gene: palb2 has been classified as Green List (High Evidence).
Inherited pancreatic cancer v0.10 MSH6 Ivone Leong Classified gene: MSH6 as Amber List (moderate evidence)
Inherited pancreatic cancer v0.10 MSH6 Ivone Leong Gene: msh6 has been classified as Amber List (Moderate Evidence).
Inherited pancreatic cancer v0.9 MSH2 Ivone Leong Classified gene: MSH2 as Amber List (moderate evidence)
Inherited pancreatic cancer v0.9 MSH2 Ivone Leong Gene: msh2 has been classified as Amber List (Moderate Evidence).
Inherited pancreatic cancer v0.8 MLH1 Ivone Leong Classified gene: MLH1 as Amber List (moderate evidence)
Inherited pancreatic cancer v0.8 MLH1 Ivone Leong Gene: mlh1 has been classified as Amber List (Moderate Evidence).
Inherited pancreatic cancer v0.7 CDKN2A Ivone Leong Classified gene: CDKN2A as Green List (high evidence)
Inherited pancreatic cancer v0.7 CDKN2A Ivone Leong Gene: cdkn2a has been classified as Green List (High Evidence).
Inherited pancreatic cancer v0.6 CDK4 Ivone Leong Classified gene: CDK4 as Green List (high evidence)
Inherited pancreatic cancer v0.6 CDK4 Ivone Leong Gene: cdk4 has been classified as Green List (High Evidence).
Inherited pancreatic cancer v0.5 BRCA2 Ivone Leong Classified gene: BRCA2 as Green List (high evidence)
Inherited pancreatic cancer v0.5 BRCA2 Ivone Leong Gene: brca2 has been classified as Green List (High Evidence).
Inherited pancreatic cancer v0.4 BRCA1 Ivone Leong Classified gene: BRCA1 as Amber List (moderate evidence)
Inherited pancreatic cancer v0.4 BRCA1 Ivone Leong Gene: brca1 has been classified as Amber List (Moderate Evidence).
Inherited pancreatic cancer v0.3 PMS2 Rachel Robinson reviewed gene: PMS2: Rating: AMBER; Mode of pathogenicity: ; Publications: 30558719; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited pancreatic cancer v0.3 MSH6 Rachel Robinson reviewed gene: MSH6: Rating: AMBER; Mode of pathogenicity: ; Publications: 30558719; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited pancreatic cancer v0.3 MSH2 Rachel Robinson reviewed gene: MSH2: Rating: AMBER; Mode of pathogenicity: ; Publications: 30558719; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited pancreatic cancer v0.3 MLH1 Rachel Robinson reviewed gene: MLH1: Rating: AMBER; Mode of pathogenicity: ; Publications: 30558719; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited pancreatic cancer v0.3 PRSS1 Rachel Robinson reviewed gene: PRSS1: Rating: AMBER; Mode of pathogenicity: ; Publications: 30558719; Phenotypes: ; Mode of inheritance:
Inherited pancreatic cancer v0.3 BRCA1 Rachel Robinson reviewed gene: BRCA1: Rating: AMBER; Mode of pathogenicity: ; Publications: 30558719; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited pancreatic cancer v0.3 STK11 Rachel Robinson reviewed gene: STK11: Rating: GREEN; Mode of pathogenicity: ; Publications: 30558719; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited pancreatic cancer v0.3 PALB2 Rachel Robinson reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30558719; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited pancreatic cancer v0.3 CDKN2A Rachel Robinson reviewed gene: CDKN2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 30558719; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited pancreatic cancer v0.3 CDK4 Rachel Robinson reviewed gene: CDK4: Rating: GREEN; Mode of pathogenicity: ; Publications: 30558719; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited pancreatic cancer v0.3 BRCA2 Rachel Robinson reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30558719; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited pancreatic cancer v0.3 PMS2 Lara Hawkes reviewed gene: PMS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited pancreatic cancer v0.3 MSH6 Lara Hawkes reviewed gene: MSH6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited pancreatic cancer v0.3 MSH2 Lara Hawkes reviewed gene: MSH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited pancreatic cancer v0.3 MLH1 Lara Hawkes reviewed gene: MLH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited pancreatic cancer v0.3 PRSS1 Lara Hawkes reviewed gene: PRSS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited pancreatic cancer v0.3 PALB2 Lara Hawkes reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited pancreatic cancer v0.3 CDKN2A Lara Hawkes reviewed gene: CDKN2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited pancreatic cancer v0.3 BRCA2 Lara Hawkes reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited pancreatic cancer v0.2 BRCA1 Ivone Leong gene: BRCA1 was added
gene: BRCA1 was added to Inherited pancreatic cancer. Sources: NHS GMS
Mode of inheritance for gene: BRCA1 was set to
Inherited pancreatic cancer v0.2 STK11 Ivone Leong gene: STK11 was added
gene: STK11 was added to Inherited pancreatic cancer. Sources: NHS GMS
Mode of inheritance for gene: STK11 was set to
Inherited pancreatic cancer v0.2 CDK4 Ivone Leong gene: CDK4 was added
gene: CDK4 was added to Inherited pancreatic cancer. Sources: NHS GMS
Mode of inheritance for gene: CDK4 was set to
Inherited pancreatic cancer v0.2 PMS2 Ivone Leong gene: PMS2 was added
gene: PMS2 was added to Inherited pancreatic cancer. Sources: Expert List,NHS GMS
Mode of inheritance for gene: PMS2 was set to
Inherited pancreatic cancer v0.2 MSH6 Ivone Leong gene: MSH6 was added
gene: MSH6 was added to Inherited pancreatic cancer. Sources: Expert List,NHS GMS
Mode of inheritance for gene: MSH6 was set to
Inherited pancreatic cancer v0.2 MSH2 Ivone Leong gene: MSH2 was added
gene: MSH2 was added to Inherited pancreatic cancer. Sources: Expert List,NHS GMS
Mode of inheritance for gene: MSH2 was set to
Inherited pancreatic cancer v0.2 MLH1 Ivone Leong gene: MLH1 was added
gene: MLH1 was added to Inherited pancreatic cancer. Sources: Expert List,NHS GMS
Mode of inheritance for gene: MLH1 was set to
Inherited pancreatic cancer v0.2 PRSS1 Ivone Leong gene: PRSS1 was added
gene: PRSS1 was added to Inherited pancreatic cancer. Sources: Expert List,NHS GMS
Mode of inheritance for gene: PRSS1 was set to
Inherited pancreatic cancer v0.2 PALB2 Ivone Leong gene: PALB2 was added
gene: PALB2 was added to Inherited pancreatic cancer. Sources: Expert List,NHS GMS
Mode of inheritance for gene: PALB2 was set to
Inherited pancreatic cancer v0.2 CDKN2A Ivone Leong gene: CDKN2A was added
gene: CDKN2A was added to Inherited pancreatic cancer. Sources: Expert List,NHS GMS
Mode of inheritance for gene: CDKN2A was set to
Inherited pancreatic cancer v0.2 BRCA2 Ivone Leong gene: BRCA2 was added
gene: BRCA2 was added to Inherited pancreatic cancer. Sources: Expert List,NHS GMS
Mode of inheritance for gene: BRCA2 was set to
Inherited pancreatic cancer v0.0 Ellen McDonagh Added Panel Inherited pancreatic cancer
Set panel types to: GMS Rare Disease