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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 v1.18 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 v1.15 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