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| Congenital hypothyroidism v0.43 | PAX8 | Chirag Patel reviewed gene: PAX8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33272083, 9590296 11232006 15356023 15718293; Phenotypes: Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.0 | PAX8 |
Zornitza Stark 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 |
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