PAX8

paired box 8
OMIM: 167415, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Amber PAX8 in Differences of Sex Development Level 2: Dysmorphic and congenital abnormality syndromes Version 1.6	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)
Green PAX8 in Mendeliome Version 1.2302	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700 Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)
Green PAX8 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700
Green PAX8 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia
Green PAX8 in Congenital hypothyroidism Level 3: Thyroid disorders Level 2: Endocrine disorders Version 0.43	1 review	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
Amber PAX8 in Fetal anomalies Version 1.313	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genomics England PanelApp Phenotypes Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700 Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)
Green PAX8 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green BabySeq Category A gene Phenotypes Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700 Tags treatable endocrine