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Mendeliome

Gene: PAX8

Green List (high evidence)

PAX8 (paired box 8)
EnsemblGeneIds (GRCh38): ENSG00000125618
EnsemblGeneIds (GRCh37): ENSG00000125618
OMIM: 167415, Gene2Phenotype
PAX8 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Isolated congenital hypothyroidism: multiple families reported.

Note PMID 33434492 reports 5 individuals identified in large cohorts with MRKHS and likely deleterious variants in PAX8. At least one of the individuals had congenital hypothyroidism together with features of MRKHS.
Created: 24 Jan 2022, 1:29 a.m. | Last Modified: 24 Jan 2022, 1:29 a.m.
Panel Version: 0.10746

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700; Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700
  • Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)
OMIM
167415
Clinvar variants
Variants in PAX8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pax8 has been classified as Green List (High Evidence).

24 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PAX8 were changed from to Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700; Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)

24 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PAX8 were set to

24 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PAX8 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: PAX8 was added gene: PAX8 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PAX8 was set to Unknown