PAX8

paired box 8
OMIM: 167415, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Red PAX8 in Genomic imprinting


Version 0.94

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 2.45
Latest signed off version: v2.2 (3 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mayer-Rokitansky-K├╝ster-Hauser syndrome (MRKHS), MONDO:0017771
Tags
  • watchlist

Green PAX8 in Fetal anomalies


Version 1.638
Latest signed off version: v1.637 (30 Jun 2021)

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 2.21
Latest signed off version: v2.2 (13 Feb 2020)

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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1002
    Latest signed off version: v3.1001 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 2.4
    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 1.66

    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

    Green PAX8 in NewbornFullV1


    Version 0.1

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green