Multiple monogenic benign skin tumours
Gene: PDGFRBThe rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 10:26 a.m. | Last Modified: 8 Mar 2022, 10:26 a.m.
Panel Version: 1.20
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.Created: 25 Nov 2021, 4:47 p.m. | Last Modified: 25 Nov 2021, 4:47 p.m.
Panel Version: 1.18
Associated with Myofibromatosis, infantile, 1 #228550 (AD) in OMIM.
PMID:23731537 - Cheung et al 2013 - the same heterozygous c.1681C>T (p.Arg561Cys) variant in PDGFRB was found in Infantile myofibromatosis (IM) affected members of 4 families (1 Chinese, 2 European, 1 French Canadian ancestry). The variant was found by WES in two families and then targetted sequencing in the other 2. In one individual they identified a second variant, c.1998C>A (p.Asn666Lys) in PDGFRB, that is predicted to be damaging. They determined that this variant is somatic as it was found in only some of the patients myofibromas and not in blood. These two variants were not found in the tumours of 5 simplex cases of IM.
PMID:23731542 - Martignetti et al 2013 - report 8 unrelated families with Infantile myofibromatosis in which 2 variants in PDGFRB were found by WES ( c.1978C>A, Pro660Thr - 1 family, c.1681C>T,Arg561Cys - 8 families).Created: 25 Nov 2021, 4:41 p.m. | Last Modified: 25 Nov 2021, 4:41 p.m.
Panel Version: 1.15
Request to add PDGFRB and NOTCH3 to MMBST panel - phenotype appropriate, but may need to broaden eligibility criteria simultaneously.Created: 21 Oct 2021, 4:16 p.m. | Last Modified: 21 Oct 2021, 4:16 p.m.
Panel Version: 1.12
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
MYOFIBROMATOSIS, INFANTILE, 1
Publications
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.Created: 19 Feb 2019, 7:43 p.m.
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: PDGFRB; 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.Created: 29 Jan 2019, 10:38 a.m.
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.
Source Expert Review Green was added to PDGFRB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: pdgfrb has been classified as Amber List (Moderate Evidence).
Tag curated_removed was removed from gene: PDGFRB.
Phenotypes for gene: PDGFRB were changed from Infantile myofibromatosis to Myofibromatosis, infantile, 1, OMIM:228550; myofibromatosis, infantile, 1, MONDO:0009227
Publications for gene: PDGFRB were set to
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.
Tag curated_removed tag was added to gene: PDGFRB.
Source Expert Review Removed was added to PDGFRB. Rating Changed from Green List (high evidence) to No List (delete)
Source London North GLH was added to PDGFRB.
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