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  3. PAX9
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Oligodontia

Gene: PAX9

Green List (high evidence)
PAX9 (paired box 9)
EnsemblGeneIds (GRCh38): ENSG00000198807
EnsemblGeneIds (GRCh37): ENSG00000198807
OMIM: 167416, Gene2Phenotype
PAX9 is in 3 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Monoallelic variants associated with oligodontia, agenesis of permanent teeth or smaller teeth
Created: 11 Apr 2022, 6:21 a.m. | Last Modified: 11 Apr 2022, 6:21 a.m.
Panel Version: 0.13

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Tooth agenesis, selective, 3 - MIM#604625

Publications

Created: 11 Apr 2022, 6:21 a.m.
Last Modified: 11 Apr 2022, 6:21 a.m.
Panel version: 0.13

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Tooth agenesis, selective, 3 - MIM#604625
OMIM
167416
Clinvar variants
Variants in PAX9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pax9 has been classified as Green List (High Evidence).

13 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PAX9 were changed from to Tooth agenesis, selective, 3 - MIM#604625

13 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PAX9 were set to

13 Apr 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PAX9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PAX9 was added gene: PAX9 was added to Oligodontia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PAX9 was set to Unknown