Genomics England
GMS Panels
Panels
Genes and Entities

PAX8

paired box 8
OMIM: 167415
PanelMode of inheritanceDetails
4 panels
Green
in Congenital hypothyroidism
R-numbers: R145
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2 218700
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700, CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2 (CHNG2)