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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 | 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 v1.12 | 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 |
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 v1.5 | PDGFRB | Arina Puzriakova Tag curated_removed tag was added to gene: PDGFRB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v0.6 | 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 v0.5 | PDGFRB | Rebecca Foulger Source London North GLH was added to PDGFRB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v0.3 | 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 |