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Mendeliome

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

3 reviews

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
  • Victorian Clinical Genetics Services
Phenotypes
  • 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
  • Ocular pterygium-digital keloid dysplasia syndrome, MIM# 621091
OMIM
173410
Clinvar variants
Variants in PDGFRB
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

5 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PDGFRB were changed from 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 to 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; Ocular pterygium-digital keloid dysplasia syndrome, MIM# 621091

5 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PDGFRB were changed from Premature aging syndrome, Penttinen type, 601812 to 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

5 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PDGFRB were set to 30573803; 26279204

24 Apr 2020, 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).

24 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PDGFRB were changed from to Premature aging syndrome, Penttinen type, 601812

24 Apr 2020, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: PDGFRB was changed from to Other

24 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PDGFRB were set to

24 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PDGFRB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PDGFRB was added gene: PDGFRB was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PDGFRB was set to Unknown