Structural eye disease
Gene: PDGFRA

PDGFRA (platelet derived growth factor receptor alpha)
EnsemblGeneIds (GRCh38): ENSG00000134853
EnsemblGeneIds (GRCh37): ENSG00000134853
OMIM: 173490, Gene2Phenotype
PDGFRA is in 10 panels

2 reviews

Sarah Leigh (Genomics England Curator)

I don't know

PMID: 35034853 identified a monoallelic PDGFRA variant in a case with Bilateral chorioretinal coloboma and microphthalmia, together with global developmental delay, autistic behaviour and delayed gross motor development. In situ hybridization showed that pdgfaa was expressed in the periocular mesenchyme cells in zebrafish embryos at 32 hpf (PMID: 35034853, Fig S1), furthermore, knockdown of pdgfa morphants resulted in coloboma phenotype (Fig 2), together with microphthalmia.
Created: 19 Oct 2023, 12:08 p.m. | Last Modified: 19 Oct 2023, 12:08 p.m.

Panel Version: 3.31

Created: 19 Oct 2023, 12:08 p.m.
Last Modified: 19 Oct 2023, 12:08 p.m.
Panel version: 3.31

Hannah Knight (NIHR BioResource - University of Cambridge)

I don't know

PMID: 35034853 - patient with bilateral chorioretinal coloboma and microphthalmia as well as global developmental delay with autistic behavior. Heterozygous variant in PDGFRA found - NM_006206.6:c.1295C>T, p.(Thr432Met). Not found in unaffected mother
Knockdown of pdgfaa and pdgfab in zebrafish caused a severe coloboma phenotype
Sources: Literature
Created: 12 Sep 2023, 12:54 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Bilateral chorioretinal coloboma, microphthalmia and global developmental delay

Publications

35034853

Created: 12 Sep 2023, 12:54 p.m.

Panel version: 3.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber

Phenotypes

Bilateral chorioretinal coloboma, microphthalmia and global developmental delay

OMIM

173490

Clinvar variants

Variants in PDGFRA

Penetrance

None

Publications

35034853

Panels with this gene

History Filter Activity

19 Oct 2023, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pdgfra has been classified as Amber List (Moderate Evidence).

12 Sep 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Hannah Knight (NIHR BioResource - University of Cambridge)

gene: PDGFRA was added gene: PDGFRA was added to Structural eye disease. Sources: Literature Mode of inheritance for gene: PDGFRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PDGFRA were set to 35034853 Phenotypes for gene: PDGFRA were set to Bilateral chorioretinal coloboma, microphthalmia and global developmental delay Review for gene: PDGFRA was set to AMBER

Structural eye disease Gene: PDGFRA