Intellectual disability - microarray and sequencing
Gene: PDGFRB
Gene causes multiple phenotypes; however, the phenotype relevant to the ID panel is Kosaki overgrowth syndrome. Note recent additional case reports, which mention early hypotonia/speech delay, cognitive impairment, and progressive neurological features.Created: 20 Jun 2018, 10:08 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
616592
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
FAMILIAL INFANTILE MYOFIBROMATOSIS
Publications
Comment on list classification: Changed Red to Green from external review comment and further recent publications to support gene-disease association with Kosaki overgrowth syndrome with intellectual disability Minatogawa M (2017) PMID: 28639748 and Gawlinki P (2018) PMID: 29226947Created: 30 Jul 2018, 10:42 a.m.
Comment on phenotypes: added Intellectual disabilityCreated: 30 Jul 2018, 10:38 a.m.
Comment on phenotypes: Removed Myofibromatosis, infantile, 1, 228550 phenotype as not relevant to this panel. Kosaki overgrowth syndrome is relevant to the ID panel is.Created: 30 Jul 2018, 10:37 a.m.
Comment on publications: Added publications suggested by external reviewer to support gene-disease association, and upgrading of the gene to GreenCreated: 30 Jul 2018, 10:36 a.m.
Confirmed gene in Developmental Disorders Genotype-Phenotype Database (DDG2P) and known to be a movement disorder associated gene but an ID phenotype is not specifically known to be associated to Infantile Myofibromatosis 1, although it has been reported in the literature variants in 2 unrelated Japanese girls gave rise to Kosaki overgrowth syndrome, which in part is characterized by progressive neurologic deterioration PMID:25454926Created: 31 Oct 2017, 11:34 a.m.
Phenotypes
Myofibromatosis, infantile, 1, 228550; Kosaki overgrowth syndrome, 616592
Publications
This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_movement_disorder_list . Main mutation mechanism : ActivatingCreated: 27 Jul 2017, 7:58 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; manju_list; GEL_ID_red_20160217; neuro_20160418_strict; Activating. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation TrustCreated: 19 Jul 2017, 1:02 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Mode of pathogenicity
Other
Comment on list classification: Not an ID geneCreated: 7 Feb 2016, 11:51 p.m.
Source Victorian Clinical Genetics Services was added to PDGFRB.
Gene: pdgfrb has been classified as Green List (High Evidence).
Phenotypes for gene: PDGFRB were set to Kosaki overgrowth syndrome, 616592; Intellectual disability
Phenotypes for gene: PDGFRB were set to Myofibromatosis, infantile, 1, 228550; Kosaki overgrowth syndrome, 616592
Publications for gene: PDGFRB were set to 23731537; 25454926; 25454926; 29226947; 28639748
12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.
Publications for gene PDGFRB was set to ['23731537', '25454926']
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
The Gel status was updated for this whole panel
The Gel status was updated for this whole panel
PDGFRB was created by ellenmcdonagh
PDGFRB was added to Intellectual disabilitypanel. Sources: Expert Review Amber