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GI tract tumours v1.18 Ivone Leong Panel name changed from Inherited colorectal cancer (with or without polyposis) to GI tract tumours
List of related panels changed from GI tract tumours; Familial colon cancer; Multiple bowel polyps; Peutz-Jeghers syndrome; GI tract to GI tract tumours; Familial colon cancer; Multiple bowel polyps; Peutz-Jeghers syndrome; GI tract; Inherited colorectal cancer (with or without polyposis)
GI tract tumours v1.17 Ivone Leong List of related panels changed from GI tract tumours; Familial colon cancer; Multiple bowel polyps; Peutz-Jeghers syndrome; GI tract; R209 to GI tract tumours; Familial colon cancer; Multiple bowel polyps; Peutz-Jeghers syndrome; GI tract
Panel types changed to Rare Disease 100K
GI tract tumours v1.16 EPCAM Ivone Leong commented on gene: EPCAM: Deletion of exons 8-9 is associated with polyposis/cancer and therefore testing would be for dosage analysis rather than sequencing. SNVs in EPCAM are not associated with polyposis/cancer.
GI tract tumours v1.16 EPCAM Ivone Leong Publications for gene: EPCAM were set to
GI tract tumours v1.15 EPCAM Ivone Leong Mode of inheritance for gene: EPCAM was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
GI tract tumours v1.14 EPCAM Ivone Leong Classified gene: EPCAM as Green List (high evidence)
GI tract tumours v1.14 EPCAM 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 there is enough evidence to rate this gene green.
GI tract tumours v1.14 EPCAM Ivone Leong Gene: epcam has been classified as Green List (High Evidence).
GI tract tumours v1.13 CDH1 Ivone Leong commented on gene: CDH1
GI tract tumours v1.13 STK11 Ivone Leong commented on gene: STK11
GI tract tumours v1.13 SMAD4 Ivone Leong commented on gene: SMAD4
GI tract tumours v1.13 PTEN Ivone Leong commented on gene: PTEN
GI tract tumours v1.13 POLE Ivone Leong commented on gene: POLE
GI tract tumours v1.13 POLD1 Ivone Leong commented on gene: POLD1
GI tract tumours v1.13 PMS2 Ivone Leong commented on gene: PMS2
GI tract tumours v1.13 NTHL1 Ivone Leong commented on gene: NTHL1
GI tract tumours v1.13 MUTYH Ivone Leong commented on gene: MUTYH
GI tract tumours v1.13 MSH6 Ivone Leong commented on gene: MSH6
GI tract tumours v1.13 MSH2 Ivone Leong commented on gene: MSH2
GI tract tumours v1.13 MLH1 Ivone Leong commented on gene: MLH1
GI tract tumours v1.13 APC Ivone Leong commented on gene: APC
GI tract tumours v1.13 BMPR1A Ivone Leong commented on gene: BMPR1A
GI tract tumours v1.13 Ivone Leong List of related panels changed from GI tract tumours; Familial colon cancer; Multiple bowel polyps; Peutz-Jeghers syndrome; GI tract to GI tract tumours; Familial colon cancer; Multiple bowel polyps; Peutz-Jeghers syndrome; GI tract; R209
GI tract tumours v1.10 RNF43 Rachel Robinson reviewed gene: RNF43: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
GI tract tumours v1.10 STK11 Rachel Robinson reviewed gene: STK11: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
GI tract tumours v1.10 SMAD4 Rachel Robinson reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
GI tract tumours v1.10 PTEN Rachel Robinson reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
GI tract tumours v1.10 PMS2 Rachel Robinson reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
GI tract tumours v1.10 POLD1 Rachel Robinson reviewed gene: POLD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
GI tract tumours v1.10 POLE Rachel Robinson reviewed gene: POLE: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
GI tract tumours v1.10 NTHL1 Rachel Robinson reviewed gene: NTHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
GI tract tumours v1.10 MUTYH Rachel Robinson reviewed gene: MUTYH: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
GI tract tumours v1.10 MSH3 Rachel Robinson reviewed gene: MSH3: Rating: GREEN; Mode of pathogenicity: ; Publications: 27476653; Phenotypes: ; Mode of inheritance:
GI tract tumours v1.10 MSH6 Rachel Robinson reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
GI tract tumours v1.10 MSH2 Rachel Robinson reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
GI tract tumours v1.10 MLH1 Rachel Robinson reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
GI tract tumours v1.10 GREM1 Rachel Robinson reviewed gene: GREM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
GI tract tumours v1.10 EPCAM Rachel Robinson reviewed gene: EPCAM: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
GI tract tumours v1.10 BMPR1A Rachel Robinson reviewed gene: BMPR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
GI tract tumours v1.10 APC Rachel Robinson reviewed gene: APC: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
GI tract tumours v1.10 POLD1 Lara Hawkes reviewed gene: POLD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
GI tract tumours v1.10 NTHL1 Lara Hawkes reviewed gene: NTHL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
GI tract tumours v1.10 POLE Lara Hawkes reviewed gene: POLE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
GI tract tumours v1.10 STK11 Lara Hawkes reviewed gene: STK11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
GI tract tumours v1.10 SMAD4 Lara Hawkes reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
GI tract tumours v1.10 PTEN Lara Hawkes reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
GI tract tumours v1.10 PMS2 Lara Hawkes reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
GI tract tumours v1.10 MUTYH Lara Hawkes reviewed gene: MUTYH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
GI tract tumours v1.10 MSH6 Lara Hawkes reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
GI tract tumours v1.10 MSH2 Lara Hawkes reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
GI tract tumours v1.10 MLH1 Lara Hawkes reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
GI tract tumours v1.10 BMPR1A Lara Hawkes reviewed gene: BMPR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
GI tract tumours v1.10 APC Lara Hawkes reviewed gene: APC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
GI tract tumours v1.9 RNF43 Ivone Leong gene: RNF43 was added
gene: RNF43 was added to Inherited colorectal cancer (with or without polyposis). Sources: NHS GMS
Mode of inheritance for gene: RNF43 was set to
GI tract tumours v1.9 MSH3 Ivone Leong Source NHS GMS was added to MSH3.
GI tract tumours v1.9 GREM1 Ivone Leong Source NHS GMS was added to GREM1.
GI tract tumours v1.9 EPCAM Ivone Leong Source NHS GMS was added to EPCAM.
GI tract tumours v1.9 POLD1 Ivone Leong Source Expert List was added to POLD1.
Source NHS GMS was added to POLD1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
GI tract tumours v1.9 NTHL1 Ivone Leong Source Expert List was added to NTHL1.
Source NHS GMS was added to NTHL1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
GI tract tumours v1.9 POLE Ivone Leong Source Expert List was added to POLE.
Source NHS GMS was added to POLE.
Rating Changed from Green List (high evidence) to Green List (high evidence)
GI tract tumours v1.9 STK11 Ivone Leong Source Expert List was added to STK11.
Source NHS GMS was added to STK11.
Rating Changed from Green List (high evidence) to Green List (high evidence)
GI tract tumours v1.9 SMAD4 Ivone Leong Source Expert List was added to SMAD4.
Source NHS GMS was added to SMAD4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
GI tract tumours v1.9 PTEN Ivone Leong Source Expert List was added to PTEN.
Source NHS GMS was added to PTEN.
Rating Changed from Green List (high evidence) to Green List (high evidence)
GI tract tumours v1.9 PMS2 Ivone Leong Source Expert List was added to PMS2.
Source NHS GMS was added to PMS2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
GI tract tumours v1.9 MUTYH Ivone Leong Source Expert List was added to MUTYH.
Source NHS GMS was added to MUTYH.
Rating Changed from Green List (high evidence) to Green List (high evidence)
GI tract tumours v1.9 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)
GI tract tumours v1.9 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)
GI tract tumours v1.9 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)
GI tract tumours v1.9 BMPR1A Ivone Leong Source Expert List was added to BMPR1A.
Source NHS GMS was added to BMPR1A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
GI tract tumours v1.9 APC Ivone Leong Source Expert List was added to APC.
Source NHS GMS was added to APC.
Rating Changed from Green List (high evidence) to Green List (high evidence)
GI tract tumours v1.7 Ellen McDonagh Panel name changed from GI tract tumours to Inherited colorectal cancer (with or without polyposis)
List of related panels changed from Familial colon cancer; Multiple bowel polyps; Peutz-Jeghers syndrome; GI tract to GI tract tumours; Familial colon cancer; Multiple bowel polyps; Peutz-Jeghers syndrome; GI tract
Panel types changed to Rare Disease 100K; GMS Rare Disease
GI tract tumours NTHL1 Sarah Leigh edited their review of NTHL1
GI tract tumours Sarah Leigh promoted panel to version 1
GI tract tumours PTPN12 Sarah Leigh commented on PTPN12
GI tract tumours SMAD4 Sarah Leigh commented on SMAD4
GI tract tumours PTEN Sarah Leigh commented on PTEN
GI tract tumours NTHL1 Sarah Leigh commented on NTHL1
GI tract tumours MSH2 Sarah Leigh commented on MSH2
GI tract tumours GREM1 Ellen McDonagh commented on GREM1
GI tract tumours EPCAM Ellen McDonagh commented on EPCAM
GI tract tumours CDH1 Ellen McDonagh classified CDH1 as amber
GI tract tumours Ellen McDonagh approved panel