Intracerebral calcification disorders
Gene: PDGFRBComment on list classification: Expert review green. PMID: 26129893 reports one family and a sporadic presentation with variants that were reported in PMID: 23255827, and it is unclear whether these are the same patients as the authors of the two publications are the same. In total, seems to be three different variants reported for 3 unrelated cases/families, with functional evidence to support the association.Created: 29 Nov 2016, 11:19 a.m.
Comment on list classification: Found in 2/4 original sources. 1 family and 1 case with Basal ganglia calcification, idiopathic, 4 reported in OMIM for two different missense variants from one publication (PMID: 23255827).Created: 9 Sep 2016, 10:30 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.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for PDGFRB were set to 23255827 - original family report and sproadic case report;26129893; 26599395 - mouse models and functional studies; 25292412 - functional studies; 24796542 - an additional case report of a idiopathic basal ganglia calcification patient with the p.R695C mutation, which resulted in partial loss of autophosphorylation
Publications for PDGFRB were set to 26129893; 26599395 - mouse models and functional studies; 25292412 - functional studies; 24796542 - an additional case report of a idiopathic basal ganglia calcification patient with the p.R695C mutation, which resulted in partial loss of autophosphorylation
Publications for PDGFRB were set to 26129893; 26599395 - mouse models and functional studies; 25292412 - functional studies
Publications for PDGFRB were set to 26129893; 26599395 - mouse models and functional studies
Publications for PDGFRB were set to 26129893; 26599395 - mouse models and functional studies
Phenotypes for PDGFRB were set to Basal ganglia calcification idiopathic 4, 615007; Calcifications in basal ganglia;Fahr syndrome
Phenotypes for PDGFRB were set to Basal ganglia calcification idiopathic 4, 615007; Calcifications in basal ganglia
This gene has been classified as Amber List (Moderate Evidence).
Publications for PDGFRB were set to 26129893; 26599395 - mouse models
Publications for PDGFRB were set to 26129893; 26599395 - mouse models; 27726124 - Copy number analysis of the WGS data revealed a heterozygous deletion of ~578 kb on chromosome 8. The deletion removes the 5' UTR region, the noncoding exon 1 and the putative promoter region of SLC20A2 as well as the coding regions of six other genes
Publications for PDGFRB were set to 26129893;26599395 - mouse models
This gene has been classified as Amber List (Moderate Evidence).
PDGFRB was added to Intracerebral calcification disorderspanel. Source: Emory Genetics Laboratory
PDGFRB was added to Intracerebral calcification disorderspanel. Source: Radboud University Medical Center, Nijmegen
PDGFRB was created by ellenmcdonagh
PDGFRB was added to Intracerebral calcification disorderspanel. Sources: Expert list