1. Genes and Genomic Entities
  2. PAX8

PAX8

paired box 8
OMIM: 167415, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red PAX8 in Genomic imprinting


Version 0.149

review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Literature
Amber PAX8 in Disorders of sex development

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

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


Version 3.164
Latest signed off version: v3.0 (22 Mar 2023)

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 3.88
Latest signed off version: v3.1 (22 Mar 2023)

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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    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 3: Thyroid disorders
    Level 2: Endocrine disorders
    Version 2.18
    Latest signed off version: v2.2 (25 Feb 2020)

    		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
    Green PAX8 in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700