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Mendeliome

Gene: PDGFB

Green List (high evidence)

PDGFB (platelet derived growth factor subunit B)
EnsemblGeneIds (GRCh38): ENSG00000100311
EnsemblGeneIds (GRCh37): ENSG00000100311
OMIM: 190040, Gene2Phenotype
PDGFB is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Idiopathic basal ganglia calcification-5 (IBGC5) is an autosomal dominant disorder characterized by progressive neurologic symptoms that are associated with brain calcifications mainly affecting the basal ganglia. Calcifications may also occur in the thalamus, cerebellum, or white matter. Affected individuals have motor symptoms, such as dyskinesias or parkinsonism, headache, cognitive impairment, and psychiatric manifestations, including apathy and depression. Some individuals are asymptomatic. The age at symptom onset ranges from late childhood to adulthood; the disorder is progressive.

Multiple families reported.
Created: 22 Dec 2020, 7:03 a.m. | Last Modified: 22 Dec 2020, 7:03 a.m.
Panel Version: 0.5769

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Basal ganglia calcification, idiopathic, 5 , MIM#615483

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Basal ganglia calcification, idiopathic, 5 , MIM#615483
OMIM
190040
Clinvar variants
Variants in PDGFB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PDGFB were changed from to Basal ganglia calcification, idiopathic, 5 , MIM#615483

22 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PDGFB were set to

22 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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