Genomics England
GMS Panels
Panels
Genes and Entities

LHX3

LIM homeobox 3
OMIM: 600577
PanelMode of inheritanceDetails
5 panels
Green
in Congenital hypothyroidism
R-numbers: R145
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GH, TSH, LH, FSH, PRL deficiency, limited neck rotation, short cervical spine, sensorineural deafness, anterior pituitary may be normal, hypoplastic or enlarged, Pituitary hormone deficiency, combined, 3, 221750
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PITUITARY HORMONE DEFICIENCY COMBINED TYPE 3 221750
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PITUITARY HORMONE DEFICIENCY COMBINED TYPE 3
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pituitary hormone deficiency, combined, 3, OMIM:221750, sensorineural hearing loss disorder, MONDO:0020678
Green
in Pituitary hormone deficiency
R-numbers: R159
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pituitary hormone deficiency, combined, 3 (221750)