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Multiple monogenic benign skin tumours v2.2 | PRDM10 |
Achchuthan Shanmugasundram gene: PRDM10 was added gene: PRDM10 was added to Multiple monogenic benign skin tumours. Sources: Literature Mode of inheritance for gene: PRDM10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRDM10 were set to 36440963 Phenotypes for gene: PRDM10 were set to Fibrofolliculoma, HP:0030436; lipomatosis, MONDO:0006574; renal cell carcinoma, MONDO:0005086 Review for gene: PRDM10 was set to RED Added comment: Comment on gene rating: This gene should be rated RED as it has only been identified with a variant in this gene from one family. PMID:36440963 reported a family presenting with skin and mucosal lesions, extensive lipomatosis and renal cell carcinomas. The proband was initially diagnosed with Birt-Hogg-Dubé syndrome (BHD, MIM #135150) based on the presence of fibrofolliculomas, but no pathogenic germline variant was detected in FLCN, the gene associated with BHD. A heterozygous missense variant (p.Cys677Tyr) was identified, which co-segregated with the phenotype in the family. Functional studies show that Cys677Tyr loses affinity for a regulatory binding motif in the FLCN promoter, abrogating cellular FLCN mRNA and protein levels. Overexpressing inducible PRDM10Cys677Tyr in renal epithelial cells altered the transcription of multiple genes, showing overlap but also differences with the effects of knocking out FLCN. This gene has not yet been associated with phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature |
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Multiple monogenic benign skin tumours v2.1 | Achchuthan Shanmugasundram Panel version 2.0 has been signed off on 2022-11-30 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v2.0 | Achchuthan Shanmugasundram promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.20 | NOTCH3 | Eleanor Williams commented on gene: NOTCH3: Removed the Q4_21_expert_review and Q4_21_NHS_review tags from this gene, and added the watchlist tag as it has only enough evidence for Amber at the moment. If more evidence is found to support the gene-disease association then the eligibility criteria for the panel needs to be expanded before promoting the gene to green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.20 | NOTCH3 |
Eleanor Williams Tag Q4_21_expert_review was removed from gene: NOTCH3. Tag Q4_21_NHS_review was removed from gene: NOTCH3. Tag watchlist tag was added to gene: NOTCH3. |
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Multiple monogenic benign skin tumours v1.20 | PDGFRB |
Arina Puzriakova Tag Q4_21_expert_review was removed from gene: PDGFRB. Tag Q4_21_rating was removed from gene: PDGFRB. Tag Q4_21_phenotype was removed from gene: PDGFRB. Tag Q4_21_NHS_review was removed from gene: PDGFRB. |
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Multiple monogenic benign skin tumours v1.20 | PDGFRB | Arina Puzriakova commented on gene: PDGFRB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.19 | PDGFRB |
Arina Puzriakova Source Expert Review Green was added to PDGFRB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Multiple monogenic benign skin tumours v1.18 | NOTCH3 |
Eleanor Williams Tag Q4_21_expert_review tag was added to gene: NOTCH3. Tag Q4_21_NHS_review tag was added to gene: NOTCH3. |
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Multiple monogenic benign skin tumours v1.18 | NOTCH3 | Eleanor Williams changed review comment from: Comment on list classification: Promoting from grey to amber. 1 case plus functional studies supporting the role of the reported NOTCH3 variant in disease.; to: Comment on list classification: Promoting from grey to amber. 1 case plus functional studies supporting the role of the reported NOTCH3 variant in disease. Note the eligibility criteria for the clinical indication will need to be expanded before promoting to green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.18 | PDGFRB | Eleanor Williams Classified gene: PDGFRB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.18 | PDGFRB | Eleanor Williams Added comment: Comment on list classification: Promoting this gene from grey (curator removed) to amber, with a green rating recommendation if approved by the GMS. Note the eligibility criteria for the clinical indication will need to be expanded before promoting to green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.18 | PDGFRB | Eleanor Williams Gene: pdgfrb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.17 | PDGFRB | Eleanor Williams Tag curated_removed was removed from gene: PDGFRB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.17 | PDGFRB | Eleanor Williams Phenotypes for gene: PDGFRB were changed from Infantile myofibromatosis to Myofibromatosis, infantile, 1, OMIM:228550; myofibromatosis, infantile, 1, MONDO:0009227 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.16 | PDGFRB | Eleanor Williams Publications for gene: PDGFRB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.15 | PDGFRB |
Eleanor Williams Tag Q4_21_expert_review tag was added to gene: PDGFRB. Tag Q4_21_rating tag was added to gene: PDGFRB. Tag Q4_21_phenotype tag was added to gene: PDGFRB. Tag Q4_21_NHS_review tag was added to gene: PDGFRB. |
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Multiple monogenic benign skin tumours v1.15 | PDGFRB | Eleanor Williams commented on gene: PDGFRB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.15 | NOTCH3 | Eleanor Williams Classified gene: NOTCH3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.15 | NOTCH3 | Eleanor Williams Added comment: Comment on list classification: Promoting from grey to amber. 1 case plus functional studies supporting the role of the reported NOTCH3 variant in disease. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.15 | NOTCH3 | Eleanor Williams Gene: notch3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.14 | NOTCH3 | Eleanor Williams Phenotypes for gene: NOTCH3 were changed from MYOFIBROMATOSIS, INFANTILE, 2 to ?Myofibromatosis, infantile 2, OMIM:615293; myofibromatosis, infantile, 2, MONDO:0014122 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.13 | NOTCH3 | Eleanor Williams Publications for gene: NOTCH3 were set to 23731542 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.12 | NOTCH3 |
Eleanor Williams changed review comment from: Provisionally associated with ?Myofibromatosis, infantile 2 #615293 (AD) in OMIM which they state is characterized by the development of benign tumors in the skin, muscle, bone, and viscera. PMID: 23731542 - Martignetti et al 2013 - In a family with Infantile myofibromatosis exome sequencing identified a heterozygous variant in NOTCH along with another candidate variant. By performing Sanger sequencing of 16 family members (9 affected and 7 unaffected) they found that only NOTCH3 mutation c.4556T>C (p.Leu1519Pro) segregated appropriately with affected status.; to: Provisionally associated with ?Myofibromatosis, infantile 2 #615293 (AD) in OMIM which they state is characterized by the development of benign tumors in the skin, muscle, bone, and viscera. PMID: 23731542 - Martignetti et al 2013 - In a family with Infantile myofibromatosis exome sequencing identified a heterozygous variant in NOTCH along with another candidate variant. By performing Sanger sequencing of 16 family members (9 affected and 7 unaffected) they found that only NOTCH3 mutation c.4556T>C (p.Leu1519Pro) segregated appropriately with affected status. PMID: 33509954 - Wu et al 2021 - looked at the molecular consequences of the NOTCH3 L1519P mutation using HEK293 cells. The NOTCH3L1519P receptor generates enhanced downstream signaling in a ligand-independent manner, but is absent from the cell surface and accumulates in the endoplasmic reticulum instead. The protein with the variant upregulates PDGFRB expression in fibroblasts. This supports a functional link between Notch and PDGF dysregulation in Infantile myofibromatosis. |
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Multiple monogenic benign skin tumours v1.12 | NOTCH3 | Eleanor Williams edited their review of gene: NOTCH3: Changed publications to: 33509954, 23731542 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.12 | NOTCH3 | Eleanor Williams commented on gene: NOTCH3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.12 | NOTCH3 |
Tom Cullup gene: NOTCH3 was added gene: NOTCH3 was added to Multiple monogenic benign skin tumours. Sources: Other Mode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NOTCH3 were set to 23731542 Phenotypes for gene: NOTCH3 were set to MYOFIBROMATOSIS, INFANTILE, 2 Penetrance for gene: NOTCH3 were set to unknown Review for gene: NOTCH3 was set to AMBER Added comment: Request to add PDGFRB and NOTCH3 to MMBST panel - phenotype appropriate, but may need to broaden eligibility criteria simultaneously. Sources: Other |
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Multiple monogenic benign skin tumours v1.12 | PDGFRB | Tom Cullup reviewed gene: PDGFRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23731537, 23731542; Phenotypes: MYOFIBROMATOSIS, INFANTILE, 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.12 | PMS2 | Ivone Leong Phenotypes for gene: PMS2 were changed from Muir Torre to Muir-Torre syndrome, MONDO:0008018 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.11 | MSH6 | Ivone Leong Phenotypes for gene: MSH6 were changed from Muir-Torre syndrome to Muir-Torre syndrome, MONDO:0008018 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.10 | MSH2 | Ivone Leong Phenotypes for gene: MSH2 were changed from to Muir-Torre syndrome, OMIM:158320 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.9 | MLH1 | Ivone Leong Phenotypes for gene: MLH1 were changed from to Muir-Torre syndrome, OMIM:158320 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.8 | LEMD3 | Ivone Leong Phenotypes for gene: LEMD3 were changed from Osteopoikilosis with or without melorheostosis(166700); BUSCHKE-OLLENDORFF SYNDROME to Osteopoikilosis with or without melorheostosis, OMIM:166700; BUSCHKE-OLLENDORFF SYNDROME, OMIM:166700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.7 | FLCN | Ivone Leong Phenotypes for gene: FLCN were changed from Birt-Hogg-Dub syndrome to Birt-Hogg-Dub syndrome, OMIM:135150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.6 | CYLD | Ivone Leong Phenotypes for gene: CYLD were changed from Familial cylindromatosis, Multiple familial trichoepitheliomas to Cylindromatosis, familial, OMIM:132700, Trichoepithelioma, multiple familial, 1, OMIM:601606 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.5 | VDR | Arina Puzriakova Tag curated_removed tag was added to gene: VDR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.5 | TSC2 | Arina Puzriakova Tag curated_removed tag was added to gene: TSC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.5 | TSC1 | Arina Puzriakova Tag curated_removed tag was added to gene: TSC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.5 | TMC8 | Arina Puzriakova Tag curated_removed tag was added to gene: TMC8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.5 | TMC6 | Arina Puzriakova Tag curated_removed tag was added to gene: TMC6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.5 | SUFU | Arina Puzriakova Tag curated_removed tag was added to gene: SUFU. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.5 | STK11 | Arina Puzriakova Tag curated_removed tag was added to gene: STK11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.5 | SASH1 | Arina Puzriakova Tag curated_removed tag was added to gene: SASH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.5 | SAMD9 | Arina Puzriakova Tag curated_removed tag was added to gene: SAMD9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.5 | PTEN | Arina Puzriakova Tag curated_removed tag was added to gene: PTEN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.5 | PTCH2 | Arina Puzriakova Tag curated_removed tag was added to gene: PTCH2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.5 | PTCH1 | Arina Puzriakova Tag curated_removed tag was added to gene: PTCH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.5 | PRKAR1A | Arina Puzriakova Tag curated_removed tag was added to gene: PRKAR1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.5 | PORCN | Arina Puzriakova Tag curated_removed tag was added to gene: PORCN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.5 | PIK3CA | Arina Puzriakova Tag curated_removed tag was added to gene: PIK3CA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.5 | PDGFRB | Arina Puzriakova Tag curated_removed tag was added to gene: PDGFRB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.5 | NRAS | Arina Puzriakova Tag curated_removed tag was added to gene: NRAS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.5 | NF1 | Arina Puzriakova Tag curated_removed tag was added to gene: NF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.5 | MC1R | Arina Puzriakova Tag curated_removed tag was added to gene: MC1R. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.5 | LEF1 | Arina Puzriakova Tag curated_removed tag was added to gene: LEF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.5 | KRT17 | Arina Puzriakova Tag curated_removed tag was added to gene: KRT17. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.5 | KRAS | Arina Puzriakova Tag curated_removed tag was added to gene: KRAS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.5 | JAK2 |
Arina Puzriakova Tag curate was removed from gene: JAK2. Tag curated_removed tag was added to gene: JAK2. |
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Multiple monogenic benign skin tumours v1.5 | JAK2 | Arina Puzriakova Tag curate tag was added to gene: JAK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.5 | IRF4 | Arina Puzriakova Tag curated_removed tag was added to gene: IRF4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.5 | HRAS | Arina Puzriakova Tag curated_removed tag was added to gene: HRAS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.5 | GLA | Arina Puzriakova Tag curated_removed tag was added to gene: GLA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.5 | GALNT3 | Arina Puzriakova Tag curated_removed tag was added to gene: GALNT3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.5 | FGFR3 | Arina Puzriakova Tag curated_removed tag was added to gene: FGFR3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.5 | FGFR2 | Arina Puzriakova Tag curated_removed tag was added to gene: FGFR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.5 | FGF23 | Arina Puzriakova Tag curated_removed tag was added to gene: FGF23. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.5 | CTNNB1 | Arina Puzriakova Tag curated_removed tag was added to gene: CTNNB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.5 | CIB1 | Arina Puzriakova Tag curated_removed tag was added to gene: CIB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.5 | CDKN2A | Arina Puzriakova Tag curated_removed tag was added to gene: CDKN2A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.5 | CDK4 | Arina Puzriakova Tag curated_removed tag was added to gene: CDK4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.5 | BRAF | Arina Puzriakova Tag curated_removed tag was added to gene: BRAF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.5 | APC | Arina Puzriakova Tag curated_removed tag was added to gene: APC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.5 | ACTRT1 | Arina Puzriakova Tag curated_removed tag was added to gene: ACTRT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.4 |
Catherine Snow Panel types changed to GMS Rare Disease; GMS signed-off Panel version has been signed off |
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Multiple monogenic benign skin tumours v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v1.0 | Ellen McDonagh promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.16 | Ellen McDonagh Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.15 |
Ellen McDonagh List of related panels changed from to R230 Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel |
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Multiple monogenic benign skin tumours v0.14 | PMS2 | Catherine Snow Phenotypes for gene: PMS2 were changed from to Muir Torre | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.13 | PMS2 | Catherine Snow Classified gene: PMS2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.13 | PMS2 | Catherine Snow Gene: pms2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.12 | PMS2 |
Catherine Snow gene: PMS2 was added gene: PMS2 was added to Multiple monogenic benign skin tumours. Sources: Expert list Mode of inheritance for gene: PMS2 was set to BIALLELIC, autosomal or pseudoautosomal Review for gene: PMS2 was set to AMBER Added comment: PMS2 is associated with Muir Torre. Clinical guidance from the Genomics England clinical team advised that as Muir Torre genes have been included on the panel PMS2 should also be added as a Amber gene. Sources: Expert list |
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Multiple monogenic benign skin tumours v0.11 | MSH6 | Catherine Snow Classified gene: MSH6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.11 | MSH6 | Catherine Snow Gene: msh6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.8 | MSH6 |
Anna de Burca gene: MSH6 was added gene: MSH6 was added to Multiple monogenic benign skin tumours. Sources: Expert list Mode of inheritance for gene: MSH6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MSH6 were set to Muir-Torre syndrome Review for gene: MSH6 was set to AMBER Added comment: There have been rare reports of MSH6 causing a Muir-Torre phenotype. Sources: Expert list |
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Multiple monogenic benign skin tumours v0.7 | VDR | Rebecca Foulger commented on gene: VDR: This gene was demoted from Red to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | SASH1 | Rebecca Foulger commented on gene: SASH1: This gene was demoted from Red to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | TSC2 | Rebecca Foulger edited their review of gene: TSC2: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | TSC1 | Rebecca Foulger edited their review of gene: TSC1: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | TMC8 | Rebecca Foulger edited their review of gene: TMC8: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | TMC6 | Rebecca Foulger edited their review of gene: TMC6: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | SUFU | Rebecca Foulger edited their review of gene: SUFU: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | STK11 | Rebecca Foulger edited their review of gene: STK11: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | SAMD9 | Rebecca Foulger edited their review of gene: SAMD9: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | PTEN | Rebecca Foulger edited their review of gene: PTEN: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | PTCH2 | Rebecca Foulger edited their review of gene: PTCH2: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | PTCH1 | Rebecca Foulger edited their review of gene: PTCH1: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | PRKAR1A | Rebecca Foulger edited their review of gene: PRKAR1A: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | PORCN | Rebecca Foulger edited their review of gene: PORCN: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | PIK3CA | Rebecca Foulger edited their review of gene: PIK3CA: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | PDGFRB | Rebecca Foulger edited their review of gene: PDGFRB: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | NRAS | Rebecca Foulger edited their review of gene: NRAS: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | NF1 | Rebecca Foulger edited their review of gene: NF1: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | MC1R | Rebecca Foulger edited their review of gene: MC1R: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | LEF1 | Rebecca Foulger edited their review of gene: LEF1: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | KRT17 | Rebecca Foulger edited their review of gene: KRT17: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | KRAS | Rebecca Foulger edited their review of gene: KRAS: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | JAK2 | Rebecca Foulger edited their review of gene: JAK2: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | IRF4 | Rebecca Foulger edited their review of gene: IRF4: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | HRAS | Rebecca Foulger edited their review of gene: HRAS: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | GLA | Rebecca Foulger edited their review of gene: GLA: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | GALNT3 | Rebecca Foulger edited their review of gene: GALNT3: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | FGFR3 | Rebecca Foulger edited their review of gene: FGFR3: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | FGFR2 | Rebecca Foulger edited their review of gene: FGFR2: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | FGF23 | Rebecca Foulger edited their review of gene: FGF23: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | CTNNB1 | Rebecca Foulger edited their review of gene: CTNNB1: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | CIB1 | Rebecca Foulger edited their review of gene: CIB1: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | CDKN2A | Rebecca Foulger edited their review of gene: CDKN2A: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | CDK4 | Rebecca Foulger edited their review of gene: CDK4: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | BRAF | Rebecca Foulger edited their review of gene: BRAF: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | APC | Rebecca Foulger edited their review of gene: APC: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | ACTRT1 | Rebecca Foulger edited their review of gene: ACTRT1: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | FLCN | Rebecca Foulger commented on gene: FLCN: In addition to being on the original list (25.Jan.2019), this gene was part of a revised gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 18.Feb.2019 on behalf of the GMS Skin Specialist Test Group. The revised list more accurately matches Clinical Indication R230. Gene Symbol submitted: FLCN; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | LEMD3 | Rebecca Foulger edited their review of gene: LEMD3: Added comment: In addition to being on the original list (25.Jan.2019), this gene was part of a revised gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 18.Feb.2019 on behalf of the GMS Skin Specialist Test Group. The revised list more accurately matches Clinical Indication R230. Gene Symbol submitted: LEMD3; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.; Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | MLH1 | Rebecca Foulger reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | MSH2 | Rebecca Foulger reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.7 | CYLD | Rebecca Foulger commented on gene: CYLD: In addition to being on the original list (25.Jan.2019), this gene was part of a revised gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 18.Feb.2019 on behalf of the GMS Skin Specialist Test Group. The revised list more accurately matches Clinical Indication R230. Gene Symbol submitted: CYLD; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.6 | MLH1 |
Rebecca Foulger gene: MLH1 was added gene: MLH1 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,London North GLH,NHS GMS Mode of inheritance for gene: MLH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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Multiple monogenic benign skin tumours v0.6 | MSH2 |
Rebecca Foulger gene: MSH2 was added gene: MSH2 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,London North GLH,NHS GMS Mode of inheritance for gene: MSH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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Multiple monogenic benign skin tumours v0.6 | VDR |
Rebecca Foulger Source Expert Review Removed was added to VDR. Rating Changed from Red List (low evidence) to No List (delete) |
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Multiple monogenic benign skin tumours v0.6 | SASH1 |
Rebecca Foulger Source Expert Review Removed was added to SASH1. Rating Changed from Red List (low evidence) to No List (delete) |
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Multiple monogenic benign skin tumours v0.6 | TSC2 |
Rebecca Foulger Source Expert Review Removed was added to TSC2. Rating Changed from Green List (high evidence) to No List (delete) |
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Multiple monogenic benign skin tumours v0.6 | TSC1 |
Rebecca Foulger Source Expert Review Removed was added to TSC1. Rating Changed from Green List (high evidence) to No List (delete) |
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Multiple monogenic benign skin tumours v0.6 | TMC8 |
Rebecca Foulger Source Expert Review Removed was added to TMC8. Rating Changed from Green List (high evidence) to No List (delete) |
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Multiple monogenic benign skin tumours v0.6 | TMC6 |
Rebecca Foulger Source Expert Review Removed was added to TMC6. Rating Changed from Green List (high evidence) to No List (delete) |
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Multiple monogenic benign skin tumours v0.6 | SUFU |
Rebecca Foulger Source Expert Review Removed was added to SUFU. Rating Changed from Green List (high evidence) to No List (delete) |
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Multiple monogenic benign skin tumours v0.6 | STK11 |
Rebecca Foulger Source Expert Review Removed was added to STK11. Rating Changed from Green List (high evidence) to No List (delete) |
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Multiple monogenic benign skin tumours v0.6 | SAMD9 |
Rebecca Foulger Source Expert Review Removed was added to SAMD9. Rating Changed from Green List (high evidence) to No List (delete) |
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Multiple monogenic benign skin tumours v0.6 | PTEN |
Rebecca Foulger Source Expert Review Removed was added to PTEN. Rating Changed from Green List (high evidence) to No List (delete) |
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Multiple monogenic benign skin tumours v0.6 | PTCH2 |
Rebecca Foulger Source Expert Review Removed was added to PTCH2. Rating Changed from Green List (high evidence) to No List (delete) |
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Multiple monogenic benign skin tumours v0.6 | PTCH1 |
Rebecca Foulger Source Expert Review Removed was added to PTCH1. Rating Changed from Green List (high evidence) to No List (delete) |
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Multiple monogenic benign skin tumours v0.6 | PRKAR1A |
Rebecca Foulger Source Expert Review Removed was added to PRKAR1A. Rating Changed from Green List (high evidence) to No List (delete) |
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Multiple monogenic benign skin tumours v0.6 | PORCN |
Rebecca Foulger Source Expert Review Removed was added to PORCN. Rating Changed from Green List (high evidence) to No List (delete) |
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Multiple monogenic benign skin tumours v0.6 | PIK3CA |
Rebecca Foulger Source Expert Review Removed was added to PIK3CA. Rating Changed from Green List (high evidence) to No List (delete) |
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Multiple monogenic benign skin tumours v0.6 | PDGFRB |
Rebecca Foulger Source Expert Review Removed was added to PDGFRB. Rating Changed from Green List (high evidence) to No List (delete) |
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Multiple monogenic benign skin tumours v0.6 | NRAS |
Rebecca Foulger Source Expert Review Removed was added to NRAS. Rating Changed from Green List (high evidence) to No List (delete) |
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Multiple monogenic benign skin tumours v0.6 | NF1 |
Rebecca Foulger Source Expert Review Removed was added to NF1. Rating Changed from Green List (high evidence) to No List (delete) |
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Multiple monogenic benign skin tumours v0.6 | MC1R |
Rebecca Foulger Source Expert Review Removed was added to MC1R. Rating Changed from Green List (high evidence) to No List (delete) |
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Multiple monogenic benign skin tumours v0.6 | LEF1 |
Rebecca Foulger Source Expert Review Removed was added to LEF1. Rating Changed from Green List (high evidence) to No List (delete) |
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Multiple monogenic benign skin tumours v0.6 | KRT17 |
Rebecca Foulger Source Expert Review Removed was added to KRT17. Rating Changed from Green List (high evidence) to No List (delete) |
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Multiple monogenic benign skin tumours v0.6 | KRAS |
Rebecca Foulger Source Expert Review Removed was added to KRAS. Rating Changed from Green List (high evidence) to No List (delete) |
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Multiple monogenic benign skin tumours v0.6 | JAK2 |
Rebecca Foulger Source Expert Review Removed was added to JAK2. Rating Changed from Green List (high evidence) to No List (delete) |
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Multiple monogenic benign skin tumours v0.6 | IRF4 |
Rebecca Foulger Source Expert Review Removed was added to IRF4. Rating Changed from Green List (high evidence) to No List (delete) |
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Multiple monogenic benign skin tumours v0.6 | HRAS |
Rebecca Foulger Source Expert Review Removed was added to HRAS. Rating Changed from Green List (high evidence) to No List (delete) |
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Multiple monogenic benign skin tumours v0.6 | GLA |
Rebecca Foulger Source Expert Review Removed was added to GLA. Rating Changed from Green List (high evidence) to No List (delete) |
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Multiple monogenic benign skin tumours v0.6 | GALNT3 |
Rebecca Foulger Source Expert Review Removed was added to GALNT3. Rating Changed from Green List (high evidence) to No List (delete) |
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Multiple monogenic benign skin tumours v0.6 | FGFR3 |
Rebecca Foulger Source Expert Review Removed was added to FGFR3. Rating Changed from Green List (high evidence) to No List (delete) |
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Multiple monogenic benign skin tumours v0.6 | FGFR2 |
Rebecca Foulger Source Expert Review Removed was added to FGFR2. Rating Changed from Green List (high evidence) to No List (delete) |
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Multiple monogenic benign skin tumours v0.6 | FGF23 |
Rebecca Foulger Source Expert Review Removed was added to FGF23. Rating Changed from Green List (high evidence) to No List (delete) |
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Multiple monogenic benign skin tumours v0.6 | CTNNB1 |
Rebecca Foulger Source Expert Review Removed was added to CTNNB1. Rating Changed from Green List (high evidence) to No List (delete) |
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Multiple monogenic benign skin tumours v0.6 | CIB1 |
Rebecca Foulger Source Expert Review Removed was added to CIB1. Rating Changed from Green List (high evidence) to No List (delete) |
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Multiple monogenic benign skin tumours v0.6 | CDKN2A |
Rebecca Foulger Source Expert Review Removed was added to CDKN2A. Rating Changed from Green List (high evidence) to No List (delete) |
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Multiple monogenic benign skin tumours v0.6 | CDK4 |
Rebecca Foulger Source Expert Review Removed was added to CDK4. Rating Changed from Green List (high evidence) to No List (delete) |
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Multiple monogenic benign skin tumours v0.6 | BRAF |
Rebecca Foulger Source Expert Review Removed was added to BRAF. Rating Changed from Green List (high evidence) to No List (delete) |
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Multiple monogenic benign skin tumours v0.6 | APC |
Rebecca Foulger Source Expert Review Removed was added to APC. Rating Changed from Green List (high evidence) to No List (delete) |
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Multiple monogenic benign skin tumours v0.6 | ACTRT1 |
Rebecca Foulger Source Expert Review Removed was added to ACTRT1. Rating Changed from Green List (high evidence) to No List (delete) |
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Multiple monogenic benign skin tumours v0.5 | VDR | Rebecca Foulger Source London North GLH was added to VDR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.5 | SASH1 | Rebecca Foulger Source London North GLH was added to SASH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.5 | TSC2 | Rebecca Foulger Source London North GLH was added to TSC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.5 | TSC1 | Rebecca Foulger Source London North GLH was added to TSC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.5 | TMC8 | Rebecca Foulger Source London North GLH was added to TMC8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.5 | TMC6 | Rebecca Foulger Source London North GLH was added to TMC6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.5 | SUFU | Rebecca Foulger Source London North GLH was added to SUFU. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.5 | STK11 | Rebecca Foulger Source London North GLH was added to STK11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.5 | SAMD9 | Rebecca Foulger Source London North GLH was added to SAMD9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.5 | PTEN | Rebecca Foulger Source London North GLH was added to PTEN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.5 | PTCH2 | Rebecca Foulger Source London North GLH was added to PTCH2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.5 | PTCH1 | Rebecca Foulger Source London North GLH was added to PTCH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.5 | PRKAR1A | Rebecca Foulger Source London North GLH was added to PRKAR1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.5 | PORCN | Rebecca Foulger Source London North GLH was added to PORCN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.5 | PIK3CA | Rebecca Foulger Source London North GLH was added to PIK3CA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.5 | PDGFRB | Rebecca Foulger Source London North GLH was added to PDGFRB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.5 | NRAS | Rebecca Foulger Source London North GLH was added to NRAS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.5 | NF1 | Rebecca Foulger Source London North GLH was added to NF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.5 | MC1R | Rebecca Foulger Source London North GLH was added to MC1R. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.5 | LEMD3 | Rebecca Foulger Source London North GLH was added to LEMD3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.5 | LEF1 | Rebecca Foulger Source London North GLH was added to LEF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.5 | KRT17 | Rebecca Foulger Source London North GLH was added to KRT17. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.5 | KRAS | Rebecca Foulger Source London North GLH was added to KRAS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.5 | JAK2 | Rebecca Foulger Source London North GLH was added to JAK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.5 | IRF4 | Rebecca Foulger Source London North GLH was added to IRF4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.5 | HRAS | Rebecca Foulger Source London North GLH was added to HRAS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.5 | GLA | Rebecca Foulger Source London North GLH was added to GLA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.5 | GALNT3 | Rebecca Foulger Source London North GLH was added to GALNT3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.5 | FLCN | Rebecca Foulger Source London North GLH was added to FLCN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.5 | FGFR3 | Rebecca Foulger Source London North GLH was added to FGFR3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.5 | FGFR2 | Rebecca Foulger Source London North GLH was added to FGFR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.5 | FGF23 | Rebecca Foulger Source London North GLH was added to FGF23. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.5 | CYLD | Rebecca Foulger Source London North GLH was added to CYLD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.5 | CTNNB1 | Rebecca Foulger Source London North GLH was added to CTNNB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.5 | CIB1 | Rebecca Foulger Source London North GLH was added to CIB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.5 | CDKN2A | Rebecca Foulger Source London North GLH was added to CDKN2A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.5 | CDK4 | Rebecca Foulger Source London North GLH was added to CDK4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.5 | BRAF | Rebecca Foulger Source London North GLH was added to BRAF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.5 | APC | Rebecca Foulger Source London North GLH was added to APC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.5 | ACTRT1 | Rebecca Foulger Source London North GLH was added to ACTRT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | CIB1 | Rebecca Foulger reviewed gene: CIB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | PORCN | Rebecca Foulger reviewed gene: PORCN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | LEMD3 | Rebecca Foulger reviewed gene: LEMD3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | VDR | Rebecca Foulger reviewed gene: VDR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | TSC2 | Rebecca Foulger reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | TSC1 | Rebecca Foulger reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | TMC8 | Rebecca Foulger reviewed gene: TMC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | TMC6 | Rebecca Foulger reviewed gene: TMC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | SUFU | Rebecca Foulger reviewed gene: SUFU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | STK11 | Rebecca Foulger reviewed gene: STK11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | SASH1 | Rebecca Foulger reviewed gene: SASH1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | SAMD9 | Rebecca Foulger reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | PTEN | Rebecca Foulger reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | PTCH2 | Rebecca Foulger reviewed gene: PTCH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | PTCH1 | Rebecca Foulger reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | PRKAR1A | Rebecca Foulger reviewed gene: PRKAR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | PIK3CA | Rebecca Foulger reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | PDGFRB | Rebecca Foulger reviewed gene: PDGFRB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | NRAS | Rebecca Foulger reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | NF1 | Rebecca Foulger reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | MC1R | Rebecca Foulger reviewed gene: MC1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | LEF1 | Rebecca Foulger reviewed gene: LEF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | KRT17 | Rebecca Foulger reviewed gene: KRT17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | KRAS | Rebecca Foulger reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | JAK2 | Rebecca Foulger reviewed gene: JAK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | IRF4 | Rebecca Foulger reviewed gene: IRF4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | HRAS | Rebecca Foulger reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | GLA | Rebecca Foulger reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | GALNT3 | Rebecca Foulger reviewed gene: GALNT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | FLCN | Rebecca Foulger reviewed gene: FLCN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | FGFR3 | Rebecca Foulger reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | FGFR2 | Rebecca Foulger reviewed gene: FGFR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | FGF23 | Rebecca Foulger reviewed gene: FGF23: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | CYLD | Rebecca Foulger reviewed gene: CYLD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | CTNNB1 | Rebecca Foulger reviewed gene: CTNNB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | CDKN2A | Rebecca Foulger reviewed gene: CDKN2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | CDK4 | Rebecca Foulger reviewed gene: CDK4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | BRAF | Rebecca Foulger reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | APC | Rebecca Foulger reviewed gene: APC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.4 | ACTRT1 | Rebecca Foulger reviewed gene: ACTRT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.3 | TMC8 | Rebecca Foulger Added phenotypes Epidermodysplasia verruciformis 2, 618231 for gene: TMC8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.3 | TMC6 | Rebecca Foulger Added phenotypes Epidermodysplasia verruciformis, 226400 for gene: TMC6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.3 | CIB1 |
Rebecca Foulger gene: CIB1 was added gene: CIB1 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CIB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CIB1 were set to Epidermodysplasia verruciformis 3, 618267 |
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Multiple monogenic benign skin tumours v0.3 | PORCN |
Rebecca Foulger gene: PORCN was added gene: PORCN was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PORCN was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: PORCN were set to Focal dermal hypoplasia,305600 |
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Multiple monogenic benign skin tumours v0.3 | LEMD3 |
Rebecca Foulger gene: LEMD3 was added gene: LEMD3 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: LEMD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LEMD3 were set to Osteopoikilosis with or without melorheostosis(166700); BUSCHKE-OLLENDORFF SYNDROME |
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Multiple monogenic benign skin tumours v0.3 | VDR |
Rebecca Foulger gene: VDR was added gene: VDR was added to Multiple monogenic benign skin tumours. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: VDR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: VDR were set to Susceptibility to skin cancer |
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Multiple monogenic benign skin tumours v0.3 | TSC2 |
Rebecca Foulger gene: TSC2 was added gene: TSC2 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TSC2 were set to Tuberous sclerosis |
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Multiple monogenic benign skin tumours v0.3 | TSC1 |
Rebecca Foulger gene: TSC1 was added gene: TSC1 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TSC1 were set to Tuberous sclerosis |
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Multiple monogenic benign skin tumours v0.3 | TMC8 |
Rebecca Foulger gene: TMC8 was added gene: TMC8 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TMC8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMC8 were set to Epidermodysplasia verruciformis |
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Multiple monogenic benign skin tumours v0.3 | TMC6 |
Rebecca Foulger gene: TMC6 was added gene: TMC6 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TMC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMC6 were set to Epidermodysplasia verruciformis |
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Multiple monogenic benign skin tumours v0.3 | SUFU |
Rebecca Foulger gene: SUFU was added gene: SUFU was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SUFU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SUFU were set to Basal cell naevus (Gorlin) syndrome |
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Multiple monogenic benign skin tumours v0.3 | STK11 |
Rebecca Foulger gene: STK11 was added gene: STK11 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: STK11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: STK11 were set to Peutz-Jeghers syndrome |
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Multiple monogenic benign skin tumours v0.3 | SASH1 |
Rebecca Foulger gene: SASH1 was added gene: SASH1 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: SASH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SASH1 were set to Dyschromatosis (het); Pigmentation defects, palmoplantar keratoderma, spinocellular carcinoma (homo) |
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Multiple monogenic benign skin tumours v0.3 | SAMD9 |
Rebecca Foulger gene: SAMD9 was added gene: SAMD9 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SAMD9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SAMD9 were set to Familial tumoural calcinosis |
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Multiple monogenic benign skin tumours v0.3 | PTEN |
Rebecca Foulger gene: PTEN was added gene: PTEN was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PTEN were set to Epidermal naevi; Melanoma; Cowden syndrome; Bannayan-Riley-Ruvalcaba syndrome |
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Multiple monogenic benign skin tumours v0.3 | PTCH2 |
Rebecca Foulger gene: PTCH2 was added gene: PTCH2 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PTCH2 were set to Basal cell naevus (Gorlin) syndrome |
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Multiple monogenic benign skin tumours v0.3 | PTCH1 |
Rebecca Foulger gene: PTCH1 was added gene: PTCH1 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PTCH1 were set to Basal cell naevus (Gorlin) syndrome |
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Multiple monogenic benign skin tumours v0.3 | PRKAR1A |
Rebecca Foulger gene: PRKAR1A was added gene: PRKAR1A was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PRKAR1A were set to Carney complex |
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Multiple monogenic benign skin tumours v0.3 | PIK3CA |
Rebecca Foulger gene: PIK3CA was added gene: PIK3CA was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PIK3CA were set to Vascular malformations; PIK3CA-related overgrowth syndromes |
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Multiple monogenic benign skin tumours v0.3 | PDGFRB |
Rebecca Foulger gene: PDGFRB was added gene: PDGFRB was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PDGFRB were set to Infantile myofibromatosis |
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Multiple monogenic benign skin tumours v0.3 | NRAS |
Rebecca Foulger gene: NRAS was added gene: NRAS was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NRAS were set to Melanocytic naevi; Noonan syndrome; Congenital melanocytic naevus syndrome |
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Multiple monogenic benign skin tumours v0.3 | NF1 |
Rebecca Foulger gene: NF1 was added gene: NF1 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NF1 were set to Neurofibromatosis type I |
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Multiple monogenic benign skin tumours v0.3 | MC1R |
Rebecca Foulger gene: MC1R was added gene: MC1R was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MC1R was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MC1R were set to Susceptibility to congenital melanocytic naevi; Pigmentation; Susceptibility to melanoma; Susceptibility to facial pigmented spots |
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Multiple monogenic benign skin tumours v0.3 | LEF1 |
Rebecca Foulger gene: LEF1 was added gene: LEF1 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: LEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LEF1 were set to Sebaceous tumours |
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Multiple monogenic benign skin tumours v0.3 | KRT17 |
Rebecca Foulger gene: KRT17 was added gene: KRT17 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: KRT17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT17 were set to Steatocystoma multiplex; Pachyonychia congenita |
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Multiple monogenic benign skin tumours v0.3 | KRAS |
Rebecca Foulger gene: KRAS was added gene: KRAS was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: KRAS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: KRAS were set to Epidermal naevi; Schimmelpenning syndrome |
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Multiple monogenic benign skin tumours v0.3 | JAK2 |
Rebecca Foulger gene: JAK2 was added gene: JAK2 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: JAK2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: JAK2 were set to Myelofibrosis |
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Multiple monogenic benign skin tumours v0.3 | IRF4 |
Rebecca Foulger gene: IRF4 was added gene: IRF4 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: IRF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: IRF4 were set to Pigmentation, susceptibility to facial pigmented spots |
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Multiple monogenic benign skin tumours v0.3 | HRAS |
Rebecca Foulger gene: HRAS was added gene: HRAS was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HRAS were set to Epidermal naevi; Costello syndrome; Woolly hair; Phakomatosis pigmentokeratotica; Schimmelpenning syndrome |
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Multiple monogenic benign skin tumours v0.3 | GLA |
Rebecca Foulger gene: GLA was added gene: GLA was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GLA were set to Fabry disease |
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Multiple monogenic benign skin tumours v0.3 | GALNT3 |
Rebecca Foulger gene: GALNT3 was added gene: GALNT3 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALNT3 were set to Familial tumoural calcinosis |
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Multiple monogenic benign skin tumours v0.3 | FLCN |
Rebecca Foulger gene: FLCN was added gene: FLCN was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FLCN were set to Birt-Hogg-Dub syndrome |
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Multiple monogenic benign skin tumours v0.3 | FGFR3 |
Rebecca Foulger gene: FGFR3 was added gene: FGFR3 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FGFR3 were set to Epidermal naevi; Syringocystadenoma papilliferum |
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Multiple monogenic benign skin tumours v0.3 | FGFR2 |
Rebecca Foulger gene: FGFR2 was added gene: FGFR2 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FGFR2 were set to Beare-Stevenson cutis gyrata |
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Multiple monogenic benign skin tumours v0.3 | FGF23 |
Rebecca Foulger gene: FGF23 was added gene: FGF23 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FGF23 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: FGF23 were set to Familial tumoural calcinosis |
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Multiple monogenic benign skin tumours v0.3 | CYLD |
Rebecca Foulger gene: CYLD was added gene: CYLD was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CYLD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CYLD were set to Familial cylindromatosis, Multiple familial trichoepitheliomas |
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Multiple monogenic benign skin tumours v0.3 | CTNNB1 |
Rebecca Foulger gene: CTNNB1 was added gene: CTNNB1 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CTNNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CTNNB1 were set to Pilomatrixomas |
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Multiple monogenic benign skin tumours v0.3 | CDKN2A |
Rebecca Foulger gene: CDKN2A was added gene: CDKN2A was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CDKN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CDKN2A were set to Melanoma susceptibility |
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Multiple monogenic benign skin tumours v0.3 | CDK4 |
Rebecca Foulger gene: CDK4 was added gene: CDK4 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CDK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CDK4 were set to Melanoma susceptibility |
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Multiple monogenic benign skin tumours v0.3 | BRAF |
Rebecca Foulger gene: BRAF was added gene: BRAF was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BRAF were set to Melanocytic naevi; Syringocystadenoma papilliferum; Cardio-facio-cutaneous syndrome |
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Multiple monogenic benign skin tumours v0.3 | APC |
Rebecca Foulger gene: APC was added gene: APC was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: APC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: APC were set to Desmoid disease |
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Multiple monogenic benign skin tumours v0.3 | ACTRT1 |
Rebecca Foulger gene: ACTRT1 was added gene: ACTRT1 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ACTRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTRT1 were set to 28869610 Phenotypes for gene: ACTRT1 were set to Bazex syndrome |
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Multiple monogenic benign skin tumours v0.2 | Ellen McDonagh Panel types changed to GMS Rare Disease; Component Of Super Panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple monogenic benign skin tumours v0.0 |
Ellen McDonagh Added Panel Multiple monogenic benign skin tumours Set panel types to: GMS Rare Disease |