Anophthalmia_Microphthalmia_Coloboma
Gene: PDGFRA

PDGFRA (platelet derived growth factor receptor alpha)
EnsemblGeneIds (GRCh38): ENSG00000134853
EnsemblGeneIds (GRCh37): ENSG00000134853
OMIM: 173490, Gene2Phenotype
PDGFRA is in 4 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

1x family with AD coloboma

zebrafish KO model
Created: 5 May 2022, 1:48 a.m. | Last Modified: 5 May 2022, 1:49 a.m.

Panel Version: 1.20

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
coloboma MONDO#0001476, PDGFRA-related

Publications

35034853

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 May 2022, 1:48 a.m.
Last Modified: 5 May 2022, 1:49 a.m.
Panel version: 1.20

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Literature

Phenotypes

coloboma MONDO#0001476, PDGFRA-related

OMIM

173490

Clinvar variants

Variants in PDGFRA

Penetrance

None

Publications

35034853

Panels with this gene

History Filter Activity

5 May 2022, Gel status: 1

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: pdgfra has been classified as Red List (Low Evidence).

5 May 2022, Gel status: 1

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: PDGFRA was added gene: PDGFRA was added to Anophthalmia_Microphthalmia_Coloboma. 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 coloboma MONDO#0001476, PDGFRA-related gene: PDGFRA was marked as current diagnostic

Anophthalmia_Microphthalmia_Coloboma Gene: PDGFRA