Intracerebral calcification disorders
Gene: PDGFBComment on list classification: Promoted from red to green due to expert review and number of new cases/families reported in PMID: 26129893, providing a total of reports for 7 families/cases.Created: 29 Nov 2016, 10:27 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Basal ganglia calcification (Fahr syndrome)
Publications
19th Dec 2016: panel revised according to expert review and internal curation review.
Publications for PDGFB were set to 27227165 - c.3G>C variant identified in 5 affected members of a family; 26129893; 25211641
This gene has been classified as Green List (High Evidence).
Phenotypes for PDGFB were set to Basal ganglia calcification, idiopathic, 5, 615483; Fahr syndrome
This gene has been classified as Green List (High Evidence).
Publications for PDGFB were set to 27227165 - c.3G>C variant identified in 5 affected members of a family;26129893
Publications for PDGFB were set to 27227165 - c.3G>C variant identified in 5 affected members of a family.
PDGFB was added to Intracerebral calcification disorderspanel. Source: Radboud University Medical Center, Nijmegen
PDGFB was added to Intracerebral calcification disorderspanel. Sources: Expert list
PDGFB was created by ellenmcdonagh