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Congenital hypothyroidism

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

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Isolated congenital hypothyroidism: multiple families reported.

In 80 to 85% of cases, congenital hypothyroidism is associated with, and presumably is a consequence of, thyroid dysgenesis. In these cases, the thyroid gland can be absent (agenesis), ectopically located, and/or severely reduced in size (hypoplasia). When thyroid hormone therapy is not initiated within the first 2 months of life, congenital hypothyroidism can cause severe neurologic, mental, and motor damage.
Created: 8 Sep 2024, 1:42 a.m. | Last Modified: 8 Sep 2024, 1:42 a.m.
Panel Version: 0.43

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 8 Sep 2024, 1:42 a.m.
Last Modified: 8 Sep 2024, 1:42 a.m.
Panel version: 0.43

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Hypothyroidism, Congenital, Nongoitrous, 2, 218700
  • thyroid dysgenesis
  • Congenital hypothyroidism
  • thyroid hypoplasia
  • Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700
  • eutopic gland-in-situ
  • urogenital tract malformations
OMIM
167415
Clinvar variants
Variants in PAX8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Feb 2021, Gel status: 3

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 Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: PAX8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PAX8 were set to PMID:23647375; PMID:9590296 Phenotypes for gene: PAX8 were set to Hypothyroidism, Congenital, Nongoitrous, 2, 218700; thyroid dysgenesis; Congenital hypothyroidism; thyroid hypoplasia; Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700; eutopic gland-in-situ; urogenital tract malformations