PROP1

PROP paired-like homeobox 1
OMIM: 601538, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green PROP1 in IUGR and IGF abnormalities

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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Pituitary hormone deficiency, combined

Green PROP1 in Pituitary hormone deficiency


Version 2.4
Signed off v.2.2 on 3 Mar 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Pituitary hormone deficiency, combined, 2 (262600)

Green PROP1 in Hypogonadotropic hypogonadism

Level 3: Hypothalamic and pituitary disorders
Level 2: Endocrine disorders
Version 1.28

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Pituitary hormone deficiency, combined, 2, 262600
  • Proportionate Short Stature/Small for Gestational Age
  • Combined Pituitary Hormone Deficiency, Recessive

Red PROP1 in Hypogonadotropic hypogonadism idiopathic


Version 1.8
Signed off v.1.4 on 4 Mar 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Combined Pituitary Hormone deficiency (OMIM 262600)

Red PROP1 in Fetal anomalies


Version 1.73
Signed off v.1.2 on 17 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PROP1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY

No list PROP1 in Osteogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.6
Signed off v.2.2 on 13 Feb 2020

review Not set
Sources
  • Expert Review Removed
  • Emory Genetics Laboratory
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age

Green PROP1 in DDG2P


Version 2.8
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PROP1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 262600

    Red PROP1 in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.18
    Signed off v.2.5 on 13 Feb 2020

    review Not set
    Sources
    • Expert

    Red PROP1 in Growth failure in early childhood


    Version 1.8
    Signed off v.1.4 on 3 Mar 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Pituitary hormone deficiency, combined

    Amber PROP1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.73
    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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Pituitary hormone deficiency, combined, 2, 262600

    Green PROP1 in Congenital hypothyroidism

    Level 3: Thyroid disorders
    Level 2: Endocrine disorders
    Version 2.3
    Signed off v.2.2 on 25 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • GH, TSH, LH, FSH, PRL deficiency with variable age of onset, evolving ACTH deficiency
    • Commonest cause of combined pituitary hormone deficit without extra pituitary manifestations
    • Hypoplastic or normal anterior pituitary although there have been reports of an enlarged anterior pituitary at initial scanning in childhood with spontaneous involution over time
    • Pituitary hormone deficiency, combined, 2, 262600

    Green PROP1 in Severe Paediatric Disorders


    Version 1.6

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Pituitary hormone deficiency, combined, 2, 262600