| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Structural eye disease v3.31 | PDGFRA | Sarah Leigh reviewed gene: PDGFRA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.31 | PDGFRA | Sarah Leigh Classified gene: PDGFRA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.31 | PDGFRA | Sarah Leigh Gene: pdgfra has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.4 | PDGFRA |
Hannah Knight 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 Added comment: 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 |
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