Cerebellar hypoplasia

Gene: PDGFRB

No list

PDGFRB (platelet derived growth factor receptor beta)
EnsemblGeneIds (GRCh38): ENSG00000113721
EnsemblGeneIds (GRCh37): ENSG00000113721
OMIM: 173410, Gene2Phenotype
PDGFRB is in 16 panels

1 review

Dmitrijs Rots (RadboudUMC)

Green List (high evidence)

In PMID: 31474318 found 4 patients with DNM variants and cerebellar hypoplasia, and additionally summarized another 1 from the literature (see suplements of the paper).
Sources: Literature
Created: 26 Jul 2021, 7:07 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cerebellar hypoplasia

Publications

History Filter Activity

26 Jul 2021, Gel status: 0

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

Dmitrijs Rots (RadboudUMC)

gene: PDGFRB was added gene: PDGFRB was added to Cerebellar hypoplasia. Sources: Literature Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PDGFRB were set to PMID: 31474318 Phenotypes for gene: PDGFRB were set to Cerebellar hypoplasia Penetrance for gene: PDGFRB were set to Complete Review for gene: PDGFRB was set to GREEN