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DDG2P

Gene: POU3F3

Green List (high evidence)

POU3F3 (POU class 3 homeobox 3)
EnsemblGeneIds (GRCh38): ENSG00000198914
EnsemblGeneIds (GRCh37): ENSG00000198914
OMIM: 602480, Gene2Phenotype
POU3F3 is in 3 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

New gene:disorder association added to DDG2P, September 2019: INTELLECTUAL DISABILITY. Disease confidence rating in DDG2P: confirmed. DDG2P mutation consequence: uncertain. DDG2P allelic requirement: monoallelic.
Created: 8 Oct 2019, 3:13 p.m. | Last Modified: 8 Oct 2019, 3:13 p.m.
Panel Version: 1.130

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • INTELLECTUAL DISABILITY 616579
OMIM
602480
Clinvar variants
Variants in POU3F3
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

8 Oct 2019, Gel status: 3

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

Rebecca Foulger (Genomics England curator)

gene: POU3F3 was added gene: POU3F3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: POU3F3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: POU3F3 were set to 31303265 Phenotypes for gene: POU3F3 were set to INTELLECTUAL DISABILITY 616579 Mode of pathogenicity for gene: POU3F3 was set to Other - please provide details in the comments