White matter disorders and cerebral calcification - narrow panel
Gene: PDGFRB
Cases in support of an already green gene: Genetic analysis of patients reported with primary familial brain calcification (PFBC) and their families by Lenglez et al (2022) identified 13 heterozygous missense variants in PDGFRB gene. These include two novel variants that were not reported before. In addition, authors combined clinical, genetic and molecular analysis data and reported nine variants as (likely) pathogenic, three as (likely) benign and one as a variant of unknown significance.Created: 12 Dec 2022, 10:52 p.m. | Last Modified: 12 Dec 2022, 10:52 p.m.
Panel Version: 2.2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Basal ganglia calcification, idiopathic, 4, MIM# 615007, MONDO:0014004
Publications
Publications for gene: PDGFRB were set to 23255827 - original family report and sproadic case report; 24796542 - an additional case report of a idiopathic basal ganglia calcification patient with the p.R695C mutation, which resulted in partial loss of autophosphorylation; 25292412 - functional studies; 26599395 - mouse models and functional studies; 26129893
Checked against super panel made up of the panel constituents. Ready to promote to version 1
gene: PDGFRB was added gene: PDGFRB was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PDGFRB were set to 23255827 - original family report and sproadic case report; 24796542 - an additional case report of a idiopathic basal ganglia calcification patient with the p.R695C mutation, which resulted in partial loss of autophosphorylation; 25292412 - functional studies; 26599395 - mouse models and functional studies; 26129893 Phenotypes for gene: PDGFRB were set to Fahr syndrome; Calcifications in basal ganglia; Basal ganglia calcification idiopathic 4, 615007