Multiple monogenic benign skin tumours

Gene: PDGFRB

The 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

Green List (high evidence)

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

• 23731537
• 23731542

Red List (low evidence)

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.