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 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2 218700
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700, CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2 (CHNG2)