Differences of Sex Development
Gene: PAX8EnsemblGeneIds (GRCh38): ENSG00000125618
EnsemblGeneIds (GRCh37): ENSG00000125618
OMIM: 167415, Gene2Phenotype
PAX8 is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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.
Variants in this gene are associated with congenital hypothyroidism.
Sources: LiteratureCreated: 4 Feb 2021, 8:28 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)
- OMIM
- 167415
- Clinvar variants
- Variants in PAX8
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pax8 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pax8 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PAX8 was added gene: PAX8 was added to Differences of Sex Development. Sources: Literature Mode of inheritance for gene: PAX8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PAX8 were set to 33434492 Phenotypes for gene: PAX8 were set to Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) Review for gene: PAX8 was set to AMBER