LHX4

LIM homeobox 4
OMIM: 602146, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green LHX4 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.30

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • hypopituitarism

Green LHX4 in Pituitary hormone deficiency


Version 2.1
Signed off v.2.0 on 31 Jul 2019

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Pituitary hormone deficiency, combined, 4 (262700)

Green LHX4 in Hypogonadotropic hypogonadism

Level 3: Hypothalamic and pituitary disorders
Level 2: Endocrine disorders
Version 1.27

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Pituitary hormone deficiency, combined, 4, 262700

Red LHX4 in Hypogonadotropic hypogonadism idiopathic


Version 1.2
Signed off v.1.1 on 31 Jul 2019

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Combined Pituitary Hormone deficiency (OMIM 262700)

Green LHX4 in Fetal anomalies


Version 1.3
Signed off v.1.2 on 17 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LHX4-RELATED COMBINED PITUITARY HORMONE DEFICIENCY

Green LHX4 in DDG2P


Version 2.3
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • LHX4-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 290135

    Red LHX4 in Growth failure in early childhood


    Version 1.3
    Signed off v.1.1 on 31 Jul 2019

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    Phenotypes
    • hypopituitarism

    Amber LHX4 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.3
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Pituitary hormone deficiency, combined, 4, 262700

    Green LHX4 in Congenital hypothyroidism

    Level 3: Thyroid disorders
    Level 2: Endocrine disorders
    Version 2.1
    Signed off v.2.0 on 31 Jul 2019

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • GH, TSH, ACTH, variable gonadotrophin deficiencies
    • cerebellar abnormalities
    • anterior pituitary hypoplasia
    • etopic posterior pituitary
    • Pituitary hormone deficiency, combined, 4, 262700