LHX4

LIM homeobox 4
OMIM: 602146, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green LHX4 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.35

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

Green LHX4 in Pituitary hormone deficiency


Version 2.6
Latest signed off version: v2.2 (3 Mar 2020)

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 1.29

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 1.30
Latest signed off version: v1.4 (4 Mar 2020)

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 1.638
Latest signed off version: v1.637 (30 Jun 2021)

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 2.21
Latest signed off version: v2.2 (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 1.58
    Latest signed off version: v1.4 (3 Mar 2020)

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

    Red LHX4 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1002
    Latest signed off version: v3.1001 (16 Dec 2021)

    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 Red
    • 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 2.4
    Latest signed off version: v2.2 (25 Feb 2020)

    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

    Green LHX4 in Severe Paediatric Disorders


    Version 1.66

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Pituitary hormone deficiency, combined, 4, 262700

    Green LHX4 in NewbornFullV1


    Version 0.1

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green