PAX8

PanelMode of inheritanceDetails
4 panels
R-numbers: R145
Signed-off version 2.2
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 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2 218700
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700, CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2 (CHNG2)