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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
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.
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.
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)
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.
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.
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.
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
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.
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
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
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
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
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
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
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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
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
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
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
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
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
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
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
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
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
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)
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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