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Newborns main panel

Gene: PAX8

Green List (high evidence)
PAX8 (paired box 8)
EnsemblGeneIds (GRCh38): ENSG00000125618
EnsemblGeneIds (GRCh37): ENSG00000125618
OMIM: 167415, Gene2Phenotype
PAX8 is in 5 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 20302910 and PMID: 30888984
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia
OMIM
167415
Clinvar variants
Variants in PAX8
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia for gene: PAX8

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to PAX8. Added phenotypes Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia for gene: PAX8 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to PAX8. Added phenotypes Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia for gene: PAX8 Rating Changed from No List (delete) to Amber List (moderate evidence)

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia for gene: PAX8

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: PAX8 was added gene: PAX8 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: PAX8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown