1. Genes and Genomic Entities
  2. PAX8

PAX8

paired box 8
OMIM: 167415, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber PAX8 in Differences in sex development


Level 2: Endocrinology
Version 4.14
Latest signed off version: v4.5 (1 May 2024)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS), MONDO:0017771
Tags
  • watchlist
Green PAX8 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2
Green PAX8 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2 218700
    Green PAX8 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700
    • CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2 (CHNG2)
    Green PAX8 in Congenital hypothyroidism


    Level 2: Endocrinology
    Version 3.3
    Latest signed off version: v3.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Congenital hypothyroidism
    • Hypothyroidism, Congenital, Nongoitrous, 2, 218700
    • Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700
    • urogenital tract malformations
    • thyroid hypoplasia
    • thyroid dysgenesis
    • eutopic gland-in-situ