Stroke

Gene: PDGFRB

Green List (high evidence)

PDGFRB (platelet derived growth factor receptor beta)
EnsemblGeneIds (GRCh38): ENSG00000113721
EnsemblGeneIds (GRCh37): ENSG00000113721
OMIM: 173410, Gene2Phenotype
PDGFRB is in 14 panels

4 reviews

Natasha Brown (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 33683022 describes 2 new cases of somatic mosaic variants in this gene with connective tissue/Marfanoid/progeriod phenotypes plus overgrowth (multiple aneurysms, varicosities, increased skin elasticity, pulmonary cysts), the same missense variant present in both patients in tissue (PDGFRB (NM_002609.3) c.1685A > G, p.(Tyr562Cys)).
PMID: 32291752 Three unrelated cases with heterozygous activating germline variants reviewed with similar phenotypes to above including early onset stroke/aneurysm.
Sources: Literature
Created: 22 Jun 2021, 12:54 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
aneurysm; scoliosis; atrophic skin; stroke; infantile myofibromatosis

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Single family reported with OPDKD phenotype characterised by aggressive circumferential ingrowth of conjunctiva beginning in early childhood that is resistant to treatment, ultimately covering the cornea and resulting in loss of vision. Digital keloid formation after minor trauma, which can become extensive and cause flexion contractures; hardened auricles. RED for this association.
Created: 5 Feb 2025, 4:44 a.m. | Last Modified: 5 Feb 2025, 4:44 a.m.
Panel Version: 1.2291
Multiple phenotypes associated with variants in this gene.
Created: 5 May 2021, 10:16 a.m. | Last Modified: 5 May 2021, 10:16 a.m.
Panel Version: 0.7491

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ocular pterygium-digital keloid dysplasia syndrome, MIM# 621091; Basal ganglia calcification, idiopathic, 4, MIM# 615007; Kosaki overgrowth syndrome, MIM# 616592; Myeloproliferative disorder with eosinophilia, MIM# 131440; Myofibromatosis, infantile, 1, MIM# 228550; Premature ageing syndrome, Penttinen type, MIM# 601812

Publications

Eleanor Williams (Genomics England)

PMID: 33450762 - Bredrup et al 2001 - report a family with a missense variant PDGFRB (p.Asn66Tyr) and Ocular pterygium-digital keloid dysplasia with the main phenotypes being vascularization of the cornea and progressive keloids on the fingers and later toes. This activating variant is temperature sensitive with higher levels of phosphorylation at 32 degrees compared to 37 degrees.  A different substitution in the same codon, p.Asn666Ser, is associated with Penttinen type of premature aging syndrome but its level of activation is not affected by temperature.
Created: 4 May 2021, 1:16 p.m. | Last Modified: 4 May 2021, 1:16 p.m.
Panel Version: 0.7488

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Ocular pterygium-digital keloid dysplasia

Publications

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

- > 3 unrelated individuals diagnosed with Penttinen syndrome
- Functional studies on patient fibroblasts, HeLa and HEK293 cells harbouring mutant constructs demonstrate constitutive tyrosine kinase activation (gain of function) compared with WT constructs
Created: 24 Apr 2020, 5:40 a.m. | Last Modified: 24 Apr 2020, 5:41 a.m.
Panel Version: 0.2611

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Premature aging syndrome, Penttinen type, 601812

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • aneurysm
  • scoliosis
  • atrophic skin
  • stroke
  • infantile myofibromatosis
Tags
somatic
OMIM
173410
Clinvar variants
Variants in PDGFRB
Penetrance
None
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

22 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pdgfrb has been classified as Green List (High Evidence).

22 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pdgfrb has been classified as Green List (High Evidence).

22 Jun 2021, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag somatic tag was added to gene: PDGFRB.

22 Jun 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Natasha Brown (Victorian Clinical Genetics Services)

gene: PDGFRB was added gene: PDGFRB was added to Stroke. Sources: Literature Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PDGFRB were set to PMID: 33683022; 32291752 Phenotypes for gene: PDGFRB were set to aneurysm; scoliosis; atrophic skin; stroke; infantile myofibromatosis Mode of pathogenicity for gene: PDGFRB was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: PDGFRB was set to GREEN