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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.
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 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 v1.12 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 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 v1.5 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)
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