Genomics England
GMS Panels
Panels
Genes and Entities

FOXE1

forkhead box E1
OMIM: 602617
PanelMode of inheritanceDetails
3 panels
Green
in Congenital hypothyroidism
R-numbers: R145
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital hypothyroidism, Bamforth Lazarus syndrome, 241850 (hypothyroidism), Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate, 241850, thyroid agenesis, cleft palate, spiky hair, choanal atresia
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BAMFORTH-LAZARUS SYNDROME 241850
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BAMFORTH-LAZARUS SYNDROME