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Inherited renal cancer v1.3 Catherine Snow Panel version has been signed off
Inherited renal cancer v1.0 Rebecca Foulger promoted panel to version 1.0
Inherited renal cancer v0.50 Rebecca Foulger Panel types changed to GMS Rare Disease; GMS signed-off
Inherited renal cancer v0.49 TMEM127 Rebecca Foulger Publications for gene: TMEM127 were set to PMID: 24334765
Inherited renal cancer v0.48 SDHD Rebecca Foulger Publications for gene: SDHD were set to PMID: 27899189
Inherited renal cancer v0.47 SDHC Rebecca Foulger Publications for gene: SDHC were set to PMID: 27899189
Inherited renal cancer v0.46 MITF Rebecca Foulger Publications for gene: MITF were set to PMID: 27899189
Inherited renal cancer v0.45 VHL Rebecca Foulger Publications for gene: VHL were set to PMID: 27899189
Inherited renal cancer v0.44 SDHB Rebecca Foulger Publications for gene: SDHB were set to PMID: 27899189
Inherited renal cancer v0.43 MET Rebecca Foulger Publications for gene: MET were set to PMID: 27899189
Inherited renal cancer v0.42 FLCN Rebecca Foulger Publications for gene: FLCN were set to PMID: 27899189
Inherited renal cancer v0.41 PTEN Rebecca Foulger Classified gene: PTEN as Amber List (moderate evidence)
Inherited renal cancer v0.41 PTEN Rebecca Foulger Added comment: Comment on list classification: PTEN has been changed from red to amber based on a comment by Shazia Mahamdallie (email communication, October 11th 2019) who notes that "amber status might be more appropriate, i.e. evidence of association but not significant".
Inherited renal cancer v0.41 PTEN Rebecca Foulger Gene: pten has been classified as Amber List (Moderate Evidence).
Inherited renal cancer v0.39 PTEN Ivone Leong Classified gene: PTEN as Red List (low evidence)
Inherited renal cancer v0.39 PTEN Ivone Leong Added comment: Comment on list classification: PTEN has been demoted from green to red as it was decided that it does not contribute significantly to inherited renal cancer susceptibility.
Inherited renal cancer v0.39 PTEN Ivone Leong Gene: pten has been classified as Red List (Low Evidence).
Inherited renal cancer v0.38 SDHD 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.
Inherited renal cancer v0.38 SDHC 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.
Inherited renal cancer v0.38 MITF 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.
Inherited renal cancer v0.38 CDKN2B 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.
Inherited renal cancer v0.38 TMEM127 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.
Inherited renal cancer v0.38 MITF Ivone Leong commented on gene: MITF
Inherited renal cancer v0.38 CDKN2B Ivone Leong Deleted their comment
Inherited renal cancer v0.38 CDKN2B Ivone Leong commented on gene: CDKN2B: 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.
Inherited renal cancer v0.38 VHL Ivone Leong commented on gene: VHL
Inherited renal cancer v0.38 SDHB Ivone Leong commented on gene: SDHB
Inherited renal cancer v0.38 PTEN Ivone Leong commented on gene: PTEN
Inherited renal cancer v0.38 FLCN Ivone Leong commented on gene: FLCN
Inherited renal cancer v0.38 MET Ivone Leong commented on gene: MET
Inherited renal cancer v0.38 FH Ivone Leong commented on gene: FH
Inherited renal cancer v0.38 BAP1 Ivone Leong commented on gene: BAP1
Inherited renal cancer v0.38 Ivone Leong List of related panels changed from to R224
Inherited renal cancer v0.37 PMS2 Ivone Leong Classified gene: PMS2 as No list
Inherited renal cancer v0.37 PMS2 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 removed from the panel as it is associated with TCC and not RCC. Therefore, this gene has been made grey.
Inherited renal cancer v0.37 PMS2 Ivone Leong Gene: pms2 has been removed from the panel.
Inherited renal cancer v0.36 MSH6 Ivone Leong Classified gene: MSH6 as No list
Inherited renal cancer v0.36 MSH6 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 removed from the panel as it is associated with TCC and not RCC. Therefore, this gene has been made grey.
Inherited renal cancer v0.36 MSH6 Ivone Leong Gene: msh6 has been removed from the panel.
Inherited renal cancer v0.35 MSH2 Ivone Leong Classified gene: MSH2 as No list
Inherited renal cancer v0.35 MSH2 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 removed from the panel as it is associated with TCC and not RCC. Therefore, this gene has been made grey.
Inherited renal cancer v0.35 MSH2 Ivone Leong Gene: msh2 has been removed from the panel.
Inherited renal cancer v0.34 MLH1 Ivone Leong Classified gene: MLH1 as No list
Inherited renal cancer v0.34 MLH1 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 removed from the panel as it is associated with TCC and not RCC. Therefore, this gene has been made grey.
Inherited renal cancer v0.34 MLH1 Ivone Leong Gene: mlh1 has been removed from the panel.
Inherited renal cancer v0.33 TMEM127 Ivone Leong Classified gene: TMEM127 as Amber List (moderate evidence)
Inherited renal cancer v0.33 TMEM127 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 renal cancer v0.33 TMEM127 Ivone Leong Gene: tmem127 has been classified as Amber List (Moderate Evidence).
Inherited renal cancer v0.32 SDHD Ivone Leong Classified gene: SDHD as Amber List (moderate evidence)
Inherited renal cancer v0.32 SDHD 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 renal cancer v0.32 SDHD Ivone Leong Gene: sdhd has been classified as Amber List (Moderate Evidence).
Inherited renal cancer v0.31 SDHC Ivone Leong Classified gene: SDHC as Amber List (moderate evidence)
Inherited renal cancer v0.31 SDHC 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 renal cancer v0.31 SDHC Ivone Leong Gene: sdhc has been classified as Amber List (Moderate Evidence).
Inherited renal cancer v0.30 CDKN2B Ivone Leong Classified gene: CDKN2B as Amber List (moderate evidence)
Inherited renal cancer v0.30 CDKN2B 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 renal cancer v0.30 CDKN2B Ivone Leong Gene: cdkn2b has been classified as Amber List (Moderate Evidence).
Inherited renal cancer v0.29 BAP1 Ivone Leong Classified gene: BAP1 as Green List (high evidence)
Inherited renal cancer v0.29 BAP1 Ivone Leong Gene: bap1 has been classified as Green List (High Evidence).
Inherited renal cancer v0.28 SDHD Ivone Leong Classified gene: SDHD as Amber List (moderate evidence)
Inherited renal cancer v0.28 SDHD Ivone Leong Gene: sdhd has been classified as Amber List (Moderate Evidence).
Inherited renal cancer v0.27 SDHC Ivone Leong Classified gene: SDHC as Amber List (moderate evidence)
Inherited renal cancer v0.27 SDHC Ivone Leong Gene: sdhc has been classified as Amber List (Moderate Evidence).
Inherited renal cancer v0.26 CDKN2B Ivone Leong Classified gene: CDKN2B as Amber List (moderate evidence)
Inherited renal cancer v0.26 CDKN2B Ivone Leong Gene: cdkn2b has been classified as Amber List (Moderate Evidence).
Inherited renal cancer v0.25 PMS2 Ivone Leong Mode of inheritance for gene: PMS2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited renal cancer v0.24 MSH6 Ivone Leong Mode of inheritance for gene: MSH6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited renal cancer v0.23 MSH2 Ivone Leong Mode of inheritance for gene: MSH2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited renal cancer v0.22 MLH1 Ivone Leong Mode of inheritance for gene: MLH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited renal cancer v0.21 FH Ivone Leong Publications for gene: FH were set to PMID: 27899189
Inherited renal cancer v0.19 CDKN2B Ivone Leong Publications for gene: CDKN2B were set to PMID:25873077
Inherited renal cancer v0.18 TMEM127 Ivone Leong Classified gene: TMEM127 as Green List (high evidence)
Inherited renal cancer v0.18 TMEM127 Ivone Leong Gene: tmem127 has been classified as Green List (High Evidence).
Inherited renal cancer v0.17 SDHD Ivone Leong Classified gene: SDHD as Green List (high evidence)
Inherited renal cancer v0.17 SDHD Ivone Leong Gene: sdhd has been classified as Green List (High Evidence).
Inherited renal cancer v0.16 SDHC Ivone Leong Classified gene: SDHC as Green List (high evidence)
Inherited renal cancer v0.16 SDHC Ivone Leong Gene: sdhc has been classified as Green List (High Evidence).
Inherited renal cancer v0.15 MITF Ivone Leong Classified gene: MITF as Amber List (moderate evidence)
Inherited renal cancer v0.15 MITF Ivone Leong Gene: mitf has been classified as Amber List (Moderate Evidence).
Inherited renal cancer v0.14 CDKN2B Ivone Leong Classified gene: CDKN2B as Green List (high evidence)
Inherited renal cancer v0.14 CDKN2B Ivone Leong Gene: cdkn2b has been classified as Green List (High Evidence).
Inherited renal cancer v0.13 VHL Ivone Leong Classified gene: VHL as Green List (high evidence)
Inherited renal cancer v0.13 VHL Ivone Leong Gene: vhl has been classified as Green List (High Evidence).
Inherited renal cancer v0.12 SDHB Ivone Leong Classified gene: SDHB as Green List (high evidence)
Inherited renal cancer v0.12 SDHB Ivone Leong Gene: sdhb has been classified as Green List (High Evidence).
Inherited renal cancer v0.11 PTEN Ivone Leong Classified gene: PTEN as Green List (high evidence)
Inherited renal cancer v0.11 PTEN Ivone Leong Gene: pten has been classified as Green List (High Evidence).
Inherited renal cancer v0.10 PMS2 Ivone Leong Classified gene: PMS2 as Amber List (moderate evidence)
Inherited renal cancer v0.10 PMS2 Ivone Leong Gene: pms2 has been classified as Amber List (Moderate Evidence).
Inherited renal cancer v0.9 MSH6 Ivone Leong Classified gene: MSH6 as Amber List (moderate evidence)
Inherited renal cancer v0.9 MSH6 Ivone Leong Gene: msh6 has been classified as Amber List (Moderate Evidence).
Inherited renal cancer v0.8 MSH2 Ivone Leong Classified gene: MSH2 as Amber List (moderate evidence)
Inherited renal cancer v0.8 MSH2 Ivone Leong Gene: msh2 has been classified as Amber List (Moderate Evidence).
Inherited renal cancer v0.7 MLH1 Ivone Leong Classified gene: MLH1 as Amber List (moderate evidence)
Inherited renal cancer v0.7 MLH1 Ivone Leong Gene: mlh1 has been classified as Amber List (Moderate Evidence).
Inherited renal cancer v0.6 MET Ivone Leong Classified gene: MET as Green List (high evidence)
Inherited renal cancer v0.6 MET Ivone Leong Gene: met has been classified as Green List (High Evidence).
Inherited renal cancer v0.5 FLCN Ivone Leong Classified gene: FLCN as Green List (high evidence)
Inherited renal cancer v0.5 FLCN Ivone Leong Gene: flcn has been classified as Green List (High Evidence).
Inherited renal cancer v0.4 FH Ivone Leong Classified gene: FH as Green List (high evidence)
Inherited renal cancer v0.4 FH Ivone Leong Gene: fh has been classified as Green List (High Evidence).
Inherited renal cancer v0.3 PMS2 Lara Hawkes reviewed gene: PMS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited renal cancer v0.3 MSH6 Lara Hawkes reviewed gene: MSH6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited renal cancer v0.3 MSH2 Lara Hawkes reviewed gene: MSH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited renal cancer v0.3 MLH1 Lara Hawkes reviewed gene: MLH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited renal cancer v0.3 BAP1 Lara Hawkes reviewed gene: BAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited renal cancer v0.3 VHL Lara Hawkes reviewed gene: VHL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited renal cancer v0.3 SDHB Lara Hawkes reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited renal cancer v0.3 PTEN Lara Hawkes reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited renal cancer v0.3 MET Lara Hawkes reviewed gene: MET: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited renal cancer v0.3 FLCN Lara Hawkes reviewed gene: FLCN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited renal cancer v0.3 FH Lara Hawkes reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited renal cancer v0.2 PMS2 Ivone Leong gene: PMS2 was added
gene: PMS2 was added to Inherited renal cancer. Sources: Expert List
Mode of inheritance for gene: PMS2 was set to
Inherited renal cancer v0.2 MSH6 Ivone Leong gene: MSH6 was added
gene: MSH6 was added to Inherited renal cancer. Sources: Expert List
Mode of inheritance for gene: MSH6 was set to
Inherited renal cancer v0.2 MSH2 Ivone Leong gene: MSH2 was added
gene: MSH2 was added to Inherited renal cancer. Sources: Expert List
Mode of inheritance for gene: MSH2 was set to
Inherited renal cancer v0.2 MLH1 Ivone Leong gene: MLH1 was added
gene: MLH1 was added to Inherited renal cancer. Sources: Expert List
Mode of inheritance for gene: MLH1 was set to
Inherited renal cancer v0.2 BAP1 Ivone Leong Source Expert List was added to BAP1.
Rating Changed from No List (delete) to Red List (low evidence)
Inherited renal cancer v0.2 VHL Ivone Leong Source Expert List was added to VHL.
Rating Changed from No List (delete) to Red List (low evidence)
Inherited renal cancer v0.2 SDHB Ivone Leong Source Expert List was added to SDHB.
Rating Changed from No List (delete) to Red List (low evidence)
Inherited renal cancer v0.2 PTEN Ivone Leong Source Expert List was added to PTEN.
Rating Changed from No List (delete) to Red List (low evidence)
Inherited renal cancer v0.2 MET Ivone Leong Source Expert List was added to MET.
Rating Changed from No List (delete) to Red List (low evidence)
Inherited renal cancer v0.2 FLCN Ivone Leong Source Expert List was added to FLCN.
Rating Changed from No List (delete) to Red List (low evidence)
Inherited renal cancer v0.2 FH Ivone Leong Source Expert List was added to FH.
Rating Changed from No List (delete) to Red List (low evidence)
Inherited renal cancer v0.1 CDKN2B Rachel Robinson reviewed gene: CDKN2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inherited renal cancer v0.1 MITF Rachel Robinson reviewed gene: MITF: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Inherited renal cancer v0.1 CDKN2B Rachel Robinson gene: CDKN2B was added
gene: CDKN2B was added to Inherited renal cancer. Sources: UKGTN
Mode of inheritance for gene: CDKN2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDKN2B were set to PMID:25873077
gene: CDKN2B was marked as current diagnostic
Inherited renal cancer v0.1 TMEM127 Rachel Robinson gene: TMEM127 was added
gene: TMEM127 was added to Inherited renal cancer. Sources: UKGTN
Mode of inheritance for gene: TMEM127 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TMEM127 were set to PMID: 24334765
Review for gene: TMEM127 was set to GREEN
gene: TMEM127 was marked as current diagnostic
Added comment: Sources: UKGTN
Inherited renal cancer v0.1 MITF Rachel Robinson gene: MITF was added
gene: MITF was added to Inherited renal cancer. Sources: UKGTN
Mode of inheritance for gene: MITF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MITF were set to PMID: 27899189
gene: MITF was marked as current diagnostic
Inherited renal cancer v0.1 PTEN Rachel Robinson gene: PTEN was added
gene: PTEN was added to Inherited renal cancer. Sources: UKGTN
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Review for gene: PTEN was set to GREEN
gene: PTEN was marked as current diagnostic
Added comment: Sources: UKGTN
Inherited renal cancer v0.1 SDHC Rachel Robinson reviewed gene: SDHC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27899189; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Inherited renal cancer v0.1 SDHD Rachel Robinson gene: SDHD was added
gene: SDHD was added to Inherited renal cancer. Sources: UKGTN
Mode of inheritance for gene: SDHD was set to Other
Publications for gene: SDHD were set to PMID: 27899189
Penetrance for gene: SDHD were set to Complete
Review for gene: SDHD was set to GREEN
gene: SDHD was marked as current diagnostic
Added comment: SDHD linked pedigrees exhibit a clear parent-of-origin effect: inheritance of paraganglioma commonly occurs in an autosomal dominant way only when paternally transmitted. There are a few reports of SDHD-related disease with maternal transmission. The SDHD gene is not imprinted, SDHD-linked tumours arise upon paternal transmission of the mutation on selective loss of the entire maternal chromosome 11 (PMID: 15064708).
Sources: UKGTN
Inherited renal cancer v0.1 SDHC Rachel Robinson gene: SDHC was added
gene: SDHC was added to Inherited renal cancer. Sources: UKGTN
Mode of inheritance for gene: SDHC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SDHC were set to PMID: 27899189
Inherited renal cancer v0.1 SDHB Rachel Robinson gene: SDHB was added
gene: SDHB was added to Inherited renal cancer. Sources: UKGTN
Mode of inheritance for gene: SDHB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SDHB were set to PMID: 27899189
Phenotypes for gene: SDHB were set to Cowden syndrome 2; Gastrointestinal stromal tumor; Paraganglioma and gastric stromal sarcoma; Paragangliomas 4; Pheochromocytoma.
Penetrance for gene: SDHB were set to Complete
Review for gene: SDHB was set to GREEN
gene: SDHB was marked as current diagnostic
Added comment: Sources: UKGTN
Inherited renal cancer v0.1 VHL Rachel Robinson gene: VHL was added
gene: VHL was added to Inherited renal cancer. Sources: UKGTN
Mode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VHL were set to PMID: 27899189
Phenotypes for gene: VHL were set to Renal hemangioblastoma; Renal cell carcinoma; Multiple renal cysts; Pheochromocytoma; Sporadic cerebellar hemangioblastoma; Hypernephroma; Pancreatic cancer; Paraganglioma; Adenocarcinoma of ampulla of Vater
Penetrance for gene: VHL were set to Complete
Review for gene: VHL was set to GREEN
gene: VHL was marked as current diagnostic
Added comment: Sources: UKGTN
Inherited renal cancer v0.1 MET Rachel Robinson gene: MET was added
gene: MET was added to Inherited renal cancer. Sources: UKGTN
Mode of inheritance for gene: MET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MET were set to PMID: 27899189
Phenotypes for gene: MET were set to hereditary papillary renal carcinoma with type 1 papillary tumors
Penetrance for gene: MET were set to Incomplete
Review for gene: MET was set to GREEN
gene: MET was marked as current diagnostic
Added comment: Sources: UKGTN
Inherited renal cancer v0.1 FLCN Rachel Robinson gene: FLCN was added
gene: FLCN was added to Inherited renal cancer. Sources: UKGTN
Mode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FLCN were set to PMID: 27899189
Phenotypes for gene: FLCN were set to Renal carcinoma; Parotid oncocytomas; Neural tissue tumors; Lipomas; Angiolipomas
Penetrance for gene: FLCN were set to Complete
Review for gene: FLCN was set to GREEN
gene: FLCN was marked as current diagnostic
Added comment: Sources: UKGTN
Inherited renal cancer v0.1 FH Rachel Robinson gene: FH was added
gene: FH was added to Inherited renal cancer. Sources: UKGTN
Mode of inheritance for gene: FH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FH were set to PMID: 27899189
Phenotypes for gene: FH were set to Uterine leiomyosarcoma (less common); Cutaneous leiomyosarcoma (less common); Renal cell carcinoma, solitary papillary type 2 (about 20% of patients)
Penetrance for gene: FH were set to Incomplete
Review for gene: FH was set to GREEN
Added comment: Mean age of diagnosis of renal cell carcinoma is 46 years.
Recessive pathogenic variants in fumarase deficiency.
Sources: UKGTN
Inherited renal cancer v0.1 BAP1 Rachel Robinson gene: BAP1 was added
gene: BAP1 was added to Inherited renal cancer. Sources: UKGTN
Mode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BAP1 were set to Malignant mesothelioma after asbestos exposure; Uveal melanoma; Cutaneous melanoma; Meningioma; Renal cell carcinoma, usually clear cell type
Penetrance for gene: BAP1 were set to Incomplete
Review for gene: BAP1 was set to GREEN
gene: BAP1 was marked as current diagnostic
Added comment: Sources: UKGTN
Inherited renal cancer v0.0 Ellen McDonagh Added Panel Inherited renal cancer
Set panel types to: GMS Rare Disease