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Familial melanoma v1.10 CDKN2A Arina Puzriakova Phenotypes for gene: CDKN2A were changed from to {Melanoma, cutaneous malignant, 2}, OMIM:155601; {Melanoma and neural system tumor syndrome}, OMIM:155755; {Melanoma-pancreatic cancer syndrome}, OMIM:606719
Familial melanoma v1.9 POT1 Arina Puzriakova Phenotypes for gene: POT1 were changed from Melanoma, cutaneous malignant, susceptibility to, 10, 615848 to Melanoma, cutaneous malignant, susceptibility to, 10, OMIM:615848
Familial melanoma v1.8 POT1 Arina Puzriakova Publications for gene: POT1 were set to 24686849; 24686846; 29523635; 30451293; 30586141; 32325837
Familial melanoma v1.7 POT1 Arina Puzriakova edited their review of gene: POT1: Changed publications: 24686849, 24686846, 29523635, 30451293, 30586141, 32325837, 32907878
Familial melanoma v1.7 POT1 Arina Puzriakova Tag for-review tag was added to gene: POT1.
Familial melanoma v1.7 POT1 Arina Puzriakova Phenotypes for gene: POT1 were changed from to Melanoma, cutaneous malignant, susceptibility to, 10, 615848
Familial melanoma v1.6 POT1 Arina Puzriakova Publications for gene: POT1 were set to
Familial melanoma v1.5 POT1 Arina Puzriakova Classified gene: POT1 as Amber List (moderate evidence)
Familial melanoma v1.5 POT1 Arina Puzriakova Added comment: Comment on list classification: Based on evidence provided by several publications, POT1 should be considered for a rating upgrade from Amber to Green, and therefore will be flagged for review at the date of next GMS panel update (added 'for-review' tag).
Familial melanoma v1.5 POT1 Arina Puzriakova Gene: pot1 has been classified as Amber List (Moderate Evidence).
Familial melanoma v1.4 POT1 Arina Puzriakova edited their review of gene: POT1: Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial melanoma v1.4 POT1 Arina Puzriakova reviewed gene: POT1: Rating: ; Mode of pathogenicity: None; Publications: 24686849, 24686846, 29523635, 30451293, 30586141, 32325837; Phenotypes: Melanoma, cutaneous malignant, susceptibility to, 10, 615848; Mode of inheritance: None
Familial melanoma v1.3 Catherine Snow Panel version has been signed off
Familial melanoma v1.0 Ivone Leong promoted panel to version 1.0
Familial melanoma v0.24 Ivone Leong Panel types changed to GMS Rare Disease; GMS signed-off
Familial melanoma v0.23 TERF2IP Ivone Leong commented on gene: TERF2IP
Familial melanoma v0.23 BRCA2 Ivone Leong commented on gene: BRCA2
Familial melanoma v0.23 ACD Ivone Leong changed review comment from: 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.; to: 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.
Familial melanoma v0.23 ACD Ivone Leong commented on gene: ACD
Familial melanoma v0.23 CDKN2A Ivone Leong commented on gene: CDKN2A
Familial melanoma v0.23 CDK4 Ivone Leong commented on gene: CDK4
Familial melanoma v0.23 BAP1 Ivone Leong commented on gene: BAP1
Familial melanoma v0.23 Ivone Leong List of related panels changed from to R254
Familial melanoma v0.22 TERT Ivone Leong Publications for gene: TERT were set to
Familial melanoma v0.21 TERT Ivone Leong Classified gene: TERT as Amber List (moderate evidence)
Familial melanoma v0.21 TERT 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.
Familial melanoma v0.21 TERT Ivone Leong Gene: tert has been classified as Amber List (Moderate Evidence).
Familial melanoma v0.20 POT1 Ivone Leong Classified gene: POT1 as Amber List (moderate evidence)
Familial melanoma v0.20 POT1 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.
Familial melanoma v0.20 POT1 Ivone Leong Gene: pot1 has been classified as Amber List (Moderate Evidence).
Familial melanoma v0.19 TERT Ivone Leong Classified gene: TERT as Amber List (moderate evidence)
Familial melanoma v0.19 TERT Ivone Leong Gene: tert has been classified as Amber List (Moderate Evidence).
Familial melanoma v0.18 POT1 Ivone Leong Classified gene: POT1 as Amber List (moderate evidence)
Familial melanoma v0.18 POT1 Ivone Leong Gene: pot1 has been classified as Amber List (Moderate Evidence).
Familial melanoma v0.17 TERT Ivone Leong Mode of inheritance for gene: TERT was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial melanoma v0.16 POT1 Ivone Leong Mode of inheritance for gene: POT1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial melanoma v0.15 BRCA2 Ivone Leong Mode of inheritance for gene: BRCA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial melanoma v0.14 ACD Ivone Leong Mode of inheritance for gene: ACD was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial melanoma v0.13 CDKN2A Ivone Leong Mode of inheritance for gene: CDKN2A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial melanoma v0.12 CDK4 Ivone Leong Mode of inheritance for gene: CDK4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial melanoma v0.11 BAP1 Ivone Leong Mode of inheritance for gene: BAP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial melanoma v0.9 TERF2IP Ivone Leong Classified gene: TERF2IP as Amber List (moderate evidence)
Familial melanoma v0.9 TERF2IP Ivone Leong Gene: terf2ip has been classified as Amber List (Moderate Evidence).
Familial melanoma v0.8 CDKN2A Ivone Leong Classified gene: CDKN2A as Green List (high evidence)
Familial melanoma v0.8 CDKN2A Ivone Leong Gene: cdkn2a has been classified as Green List (High Evidence).
Familial melanoma v0.7 CDK4 Ivone Leong Classified gene: CDK4 as Green List (high evidence)
Familial melanoma v0.7 CDK4 Ivone Leong Gene: cdk4 has been classified as Green List (High Evidence).
Familial melanoma v0.6 BRCA2 Ivone Leong Classified gene: BRCA2 as Amber List (moderate evidence)
Familial melanoma v0.6 BRCA2 Ivone Leong Gene: brca2 has been classified as Amber List (Moderate Evidence).
Familial melanoma v0.5 BAP1 Ivone Leong Classified gene: BAP1 as Green List (high evidence)
Familial melanoma v0.5 BAP1 Ivone Leong Gene: bap1 has been classified as Green List (High Evidence).
Familial melanoma v0.4 ACD Ivone Leong Classified gene: ACD as Amber List (moderate evidence)
Familial melanoma v0.4 ACD Ivone Leong Gene: acd has been classified as Amber List (Moderate Evidence).
Familial melanoma v0.3 POT1 Rachel Robinson reviewed gene: POT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Familial melanoma v0.3 TERT Rachel Robinson reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Familial melanoma v0.3 CDK4 Rachel Robinson reviewed gene: CDK4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Familial melanoma v0.3 CDKN2A Rachel Robinson reviewed gene: CDKN2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Familial melanoma v0.3 BAP1 Rachel Robinson reviewed gene: BAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Familial melanoma v0.3 BRCA2 Lara Hawkes reviewed gene: BRCA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Familial melanoma v0.3 POT1 Lara Hawkes reviewed gene: POT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Familial melanoma v0.3 ACD Lara Hawkes reviewed gene: ACD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Familial melanoma v0.3 TERF2IP Lara Hawkes reviewed gene: TERF2IP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Familial melanoma v0.3 TERT Lara Hawkes reviewed gene: TERT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Familial melanoma v0.3 CDKN2A Lara Hawkes reviewed gene: CDKN2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Familial melanoma v0.3 CDK4 Lara Hawkes reviewed gene: CDK4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Familial melanoma v0.3 BAP1 Lara Hawkes reviewed gene: BAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Familial melanoma v0.2 BRCA2 Ivone Leong gene: BRCA2 was added
gene: BRCA2 was added to Familial melanoma. Sources: NHS GMS
Mode of inheritance for gene: BRCA2 was set to
Familial melanoma v0.2 POT1 Ivone Leong gene: POT1 was added
gene: POT1 was added to Familial melanoma. Sources: Expert List,NHS GMS
Mode of inheritance for gene: POT1 was set to
Familial melanoma v0.2 ACD Ivone Leong gene: ACD was added
gene: ACD was added to Familial melanoma. Sources: NHS GMS
Mode of inheritance for gene: ACD was set to
Familial melanoma v0.2 TERF2IP Ivone Leong gene: TERF2IP was added
gene: TERF2IP was added to Familial melanoma. Sources: NHS GMS
Mode of inheritance for gene: TERF2IP was set to
Familial melanoma v0.2 TERT Ivone Leong gene: TERT was added
gene: TERT was added to Familial melanoma. Sources: Expert List,NHS GMS
Mode of inheritance for gene: TERT was set to
Familial melanoma v0.2 CDKN2A Ivone Leong gene: CDKN2A was added
gene: CDKN2A was added to Familial melanoma. Sources: Expert List,NHS GMS
Mode of inheritance for gene: CDKN2A was set to
Familial melanoma v0.2 CDK4 Ivone Leong gene: CDK4 was added
gene: CDK4 was added to Familial melanoma. Sources: Expert List,NHS GMS
Mode of inheritance for gene: CDK4 was set to
Familial melanoma v0.2 BAP1 Ivone Leong gene: BAP1 was added
gene: BAP1 was added to Familial melanoma. Sources: Expert List,NHS GMS
Mode of inheritance for gene: BAP1 was set to
Familial melanoma v0.0 Ellen McDonagh Added Panel Familial melanoma
Set panel types to: GMS Rare Disease