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Intellectual disability

Gene: PDGFRB

Green List (high evidence)

PDGFRB (platelet derived growth factor receptor beta)
EnsemblGeneIds (GRCh38): ENSG00000113721
EnsemblGeneIds (GRCh37): ENSG00000113721
OMIM: 173410, Gene2Phenotype
PDGFRB is in 12 panels

6 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Caroline Wright (Sanger)

I don't know

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
FAMILIAL INFANTILE MYOFIBROMATOSIS

Publications

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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: 29226947
Created: 30 Jul 2018, 10:42 a.m.
Comment on phenotypes: added Intellectual disability
Created: 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 Green
Created: 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:25454926
Created: 31 Oct 2017, 11:34 a.m.

Phenotypes
Myofibromatosis, infantile, 1, 228550; Kosaki overgrowth syndrome, 616592

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

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 : Activating
Created: 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 Trust
Created: 19 Jul 2017, 1:02 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

  • 25529582
  • Personal communication with NIHRBRRD BRIDGE SPEED

Mode of pathogenicity
Other

Lu Raymond (university of cambridge )

I don't know

Richard Scott (Genomics England Curator)

Comment on list classification: Not an ID gene
Created: 7 Feb 2016, 11:51 p.m.

History Filter Activity

29 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to PDGFRB.

30 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

30 Jul 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: PDGFRB were set to Kosaki overgrowth syndrome, 616592; Intellectual disability

30 Jul 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: PDGFRB were set to Myofibromatosis, infantile, 1, 228550; Kosaki overgrowth syndrome, 616592

30 Jul 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: PDGFRB were set to 23731537; 25454926; 25454926; 29226947; 28639748

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

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.

29 Nov 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene PDGFRB was set to ['23731537', '25454926']

8 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

7 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PDGFRB was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PDGFRB was added to Intellectual disabilitypanel. Sources: Expert Review Amber