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DDG2P

Gene: PAX9

Green List (high evidence)

PAX9 (paired box 9)
EnsemblGeneIds (GRCh38): ENSG00000198807
EnsemblGeneIds (GRCh37): ENSG00000198807
OMIM: 167416, Gene2Phenotype
PAX9 is in 4 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed.
Created: 19 Nov 2018, 11:30 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • TOOTH AGENESIS, SELECTIVE, 3 604625
OMIM
167416
Clinvar variants
Variants in PAX9
Penetrance
None
Panels with this gene

History Filter Activity

3 Oct 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: PAX9 were changed from TOOTH AGENESIS, SELECTIVE, 3 318869 to TOOTH AGENESIS, SELECTIVE, 3 604625

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: PAX9 was added gene: PAX9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PAX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PAX9 were set to TOOTH AGENESIS, SELECTIVE, 3 318869