Activity
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107 actions
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| Familial melanoma v2.15 | Ida Ertmanska List of related panels changed from R254 to R254; GT402; TP483 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v2.14 | MITF | Achchuthan Shanmugasundram Classified gene: MITF as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v2.14 | MITF | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is emerging evidence for significant enrichment of germline p.Glu318Lys variant from MITF gene in melanoma patients in comparison to population control. However, there are no other variants from this gene has been associated with risk of melanoma. This gene has been rated amber with current evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v2.14 | MITF | Achchuthan Shanmugasundram Gene: mitf has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v2.13 | MITF | Achchuthan Shanmugasundram Phenotypes for gene: MITF were changed from Mucosal melanoma to {Melanoma, cutaneous malignant, susceptibility to, 8}, OMIM:614456; melanoma, cutaneous malignant, susceptibility to, 8, MONDO:0013759 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v2.12 | MITF | Achchuthan Shanmugasundram Publications for gene: MITF were set to PMID: 42177185 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v2.11 | MITF | Achchuthan Shanmugasundram Mode of inheritance for gene: MITF was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v2.10 | MITF |
Achchuthan Shanmugasundram changed review comment from: PMID:22012259 (2011) reported the presence of higher than five-fold increased risk of developing melanoma, renal cell carcinoma or both cancers in individuals with germline missense substitution in MITF gene (p.Glu318Lys), when compared with controls. PMID: 22080950 (2011) reported the whole-genome sequencing of probands from several melanoma families, of which one individual was identified with p.Glu318Lys variant in MITF gene. The MITF variant allele was found in 3/7 melanoma cases assessed in this family, consistent with it being a medium-penetrance melanoma risk variant. This variant was significantly associated with melanoma in a large Australian case-control sample and in an independent case-control sample from the UK. Functional analysis of E318K showed that MITF encoded by the variant allele had impaired sumoylation and differentially regulated several MITF targets. PMID:42177185 (2026) reported a study of 346 mucosal melanoma patients, of which germline pathogenic variant in MITF (p.Glu318Lys) was identified in six patients, which was a significant enrichment compared to population control rates. This gene has been associated with relevant susceptibility phenotype in OMIM (MIM #614456) and OMIm record was last accessed 19 June 2026.; to: PMID:22012259 (2011) reported the presence of higher than five-fold increased risk of developing melanoma, renal cell carcinoma or both cancers in individuals with germline missense substitution in MITF gene (p.Glu318Lys), when compared with controls. PMID: 22080950 (2011) reported the whole-genome sequencing of probands from several melanoma families, of which one individual was identified with p.Glu318Lys variant in MITF gene. The MITF variant allele was found in 3/7 melanoma cases assessed in this family, consistent with it being a medium-penetrance melanoma risk variant. This variant was significantly associated with melanoma in a large Australian case-control sample and in an independent case-control sample from the UK. Functional analysis of E318K showed that MITF encoded by the variant allele had impaired sumoylation and differentially regulated several MITF targets. PMID:42177185 (2026) reported a study of 346 mucosal melanoma patients, of which germline pathogenic variant in MITF (p.Glu318Lys) was identified in six patients, which was a significant enrichment compared to population control rates. This gene has been associated with relevant susceptibility phenotype in OMIM (MIM #614456) and OMIM record was last accessed 19 June 2026. This gene is included in Cancer panel with 'limited' rating in Gene2Phenotype. |
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| Familial melanoma v2.10 | MITF |
Achchuthan Shanmugasundram changed review comment from: PMID:22012259 (2011) reported the presence of higher than five-fold increased risk of developing melanoma, renal cell carcinoma or both cancers in individuals with germline missense substitution in MITF gene (p.Glu318Lys), when compared with controls. PMID: 22080950 (2011) reported the whole-genome sequencing of probands from several melanoma families, of which one individual was identified with p.Glu318Lys variant in MITF gene. The MITF variant allele was found in 3/7 melanoma cases assessed in this family, consistent with it being a medium-penetrance melanoma risk variant. This variant was significantly associated with melanoma in a large Australian case-control sample and in an independent case-control sample from the UK. Functional analysis of E318K showed that MITF encoded by the variant allele had impaired sumoylation and differentially regulated several MITF targets. ; to: PMID:22012259 (2011) reported the presence of higher than five-fold increased risk of developing melanoma, renal cell carcinoma or both cancers in individuals with germline missense substitution in MITF gene (p.Glu318Lys), when compared with controls. PMID: 22080950 (2011) reported the whole-genome sequencing of probands from several melanoma families, of which one individual was identified with p.Glu318Lys variant in MITF gene. The MITF variant allele was found in 3/7 melanoma cases assessed in this family, consistent with it being a medium-penetrance melanoma risk variant. This variant was significantly associated with melanoma in a large Australian case-control sample and in an independent case-control sample from the UK. Functional analysis of E318K showed that MITF encoded by the variant allele had impaired sumoylation and differentially regulated several MITF targets. PMID:42177185 (2026) reported a study of 346 mucosal melanoma patients, of which germline pathogenic variant in MITF (p.Glu318Lys) was identified in six patients, which was a significant enrichment compared to population control rates. This gene has been associated with relevant susceptibility phenotype in OMIM (MIM #614456) and OMIm record was last accessed 19 June 2026. |
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| Familial melanoma v2.10 | MITF | Achchuthan Shanmugasundram edited their review of gene: MITF: Changed publications to: 22012259, 22080950, 42177185 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v2.10 | MITF |
Achchuthan Shanmugasundram changed review comment from: PMID:22012259 (2011) reported the presence of higher than five-fold increased risk of developing melanoma, renal cell carcinoma or both cancers in individuals with germline missense substitution in MITF gene (p.Glu318Lys), when compared with controls. PMID: 22080950 (2011) reported the whole-genome sequencing of probands from several melanoma families, of which one individual was identified with p.Glu318Lys variant in MITF gene.; to: PMID:22012259 (2011) reported the presence of higher than five-fold increased risk of developing melanoma, renal cell carcinoma or both cancers in individuals with germline missense substitution in MITF gene (p.Glu318Lys), when compared with controls. PMID: 22080950 (2011) reported the whole-genome sequencing of probands from several melanoma families, of which one individual was identified with p.Glu318Lys variant in MITF gene. The MITF variant allele was found in 3/7 melanoma cases assessed in this family, consistent with it being a medium-penetrance melanoma risk variant. This variant was significantly associated with melanoma in a large Australian case-control sample and in an independent case-control sample from the UK. Functional analysis of E318K showed that MITF encoded by the variant allele had impaired sumoylation and differentially regulated several MITF targets. |
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| Familial melanoma v2.10 | MITF | Achchuthan Shanmugasundram reviewed gene: MITF: Rating: AMBER; Mode of pathogenicity: None; Publications: 22012259, 22080950; Phenotypes: {Melanoma, cutaneous malignant, susceptibility to, 8}, OMIM:614456, melanoma, cutaneous malignant, susceptibility to, 8, MONDO:0013759; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v2.10 | CHEK2 | Ida Ertmanska Classified gene: CHEK2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v2.10 | CHEK2 | Ida Ertmanska Added comment: Comment on list classification: While there is emerging evidence for association of CHEK2 variants with risk of melanoma (e.g., PMID: 42177185), there are several studies that did not find a significant association. Hence, this gene can only be rated Amber with the current evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v2.10 | CHEK2 | Ida Ertmanska Gene: chek2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v2.9 | CHEK2 | Ida Ertmanska Phenotypes for gene: CHEK2 were changed from Tumor predisposition syndrome 4, breast/prostate/colorectal, OMIM:609265 to Tumor predisposition syndrome 4, breast/prostate/colorectal, OMIM:609265; mucosal melanoma, MONDO:0000544; uveal melanoma, MONDO:0006486 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v2.8 | CHEK2 | Ida Ertmanska Phenotypes for gene: CHEK2 were changed from Mucosal melanoma to Tumor predisposition syndrome 4, breast/prostate/colorectal, OMIM:609265 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v2.7 | CHEK2 | Ida Ertmanska Publications for gene: CHEK2 were set to PMID: 42177185 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v2.6 | CHEK2 | Ida Ertmanska Mode of inheritance for gene: CHEK2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v2.5 | CHEK2 | Ida Ertmanska reviewed gene: CHEK2: Rating: AMBER; Mode of pathogenicity: None; Publications: 32531112, 40283643; Phenotypes: Tumor predisposition syndrome 4, breast/prostate/colorectal, OMIM:609265; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v2.5 | CHEK2 |
Riyaad Aungraheeta gene: CHEK2 was added gene: CHEK2 was added to Familial melanoma. Sources: Literature Mode of inheritance for gene: CHEK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CHEK2 were set to PMID: 42177185 Phenotypes for gene: CHEK2 were set to Mucosal melanoma Review for gene: CHEK2 was set to AMBER Added comment: The CHEK2 c.1100delC variant was enriched in this retrospective cohort of mucosal melanoma patients compared to population controls (OR 6.7; 95% CI 1.8–17.5). Sources: Literature |
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| Familial melanoma v2.5 | MITF |
Riyaad Aungraheeta gene: MITF was added gene: MITF was added to Familial melanoma. Sources: Literature Mode of inheritance for gene: MITF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MITF were set to PMID: 42177185 Phenotypes for gene: MITF were set to Mucosal melanoma Review for gene: MITF was set to AMBER Added comment: The MITF E318K variant was enriched in this retrospective cohort of mucosal melanoma patients compared to population controls (OR 6.0; 95% CI 2.2–13.2). Sources: Literature |
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| Familial melanoma v2.4 | BAP1 | Arina Puzriakova Phenotypes for gene: BAP1 were changed from to Tumor predisposition syndrome 1, OMIM:614327; {Uveal melanoma, susceptibility to, 2}, OMIM:606661 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v2.1 | Catherine Snow Panel version 2.0 has been signed off on 2022-11-30 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v2.0 | Catherine Snow promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v1.14 | TERT | Arina Puzriakova Publications for gene: TERT were set to 23348503 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v1.13 | TERT | Arina Puzriakova Tag watchlist tag was added to gene: TERT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v1.13 | TERT | Arina Puzriakova reviewed gene: TERT: Rating: ; Mode of pathogenicity: None; Publications: 23348503, 23348506, 35912549; Phenotypes: {Melanoma, cutaneous malignant, 9}, OMIM:615134; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v1.13 | TERT | Arina Puzriakova Phenotypes for gene: TERT were changed from to {Melanoma, cutaneous malignant, 9}, OMIM:615134 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v1.12 | POT1 | Arina Puzriakova Tag for-review was removed from gene: POT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v1.12 | POT1 | Arina Puzriakova commented on gene: POT1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v1.11 | POT1 |
Arina Puzriakova Source Expert Review Green was added to POT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| Familial melanoma v0.0 |
Ellen McDonagh Added Panel Familial melanoma Set panel types to: GMS Rare Disease |
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