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DDG2P

Gene: PRR12

Amber List (moderate evidence)

PRR12 (proline rich 12)
EnsemblGeneIds (GRCh38): ENSG00000126464
EnsemblGeneIds (GRCh37): ENSG00000126464
OMIM: 616633, Gene2Phenotype
PRR12 is in 3 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

New gene:disorder association added to DDG2P in March 2019: Intellectual disability and iris abnormalities. DDG2P Disease confidence: probable. Missing DDG2P mode of pathogenicity/mutation consequence. Missing DDG2P mode of inheritance.
Created: 22 Apr 2019, 7:34 p.m.

Details

Sources
  • Expert Review Amber
  • DD-Gene2Phenotype
Phenotypes
  • Intellectual disability and iris abnormalities
OMIM
616633
Clinvar variants
Variants in PRR12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Apr 2019, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: PRR12 was added gene: PRR12 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PRR12 was set to Publications for gene: PRR12 were set to 29556724; 26163108 Phenotypes for gene: PRR12 were set to Intellectual disability and iris abnormalities