PROP1

PROP paired-like homeobox 1
OMIM: 601538, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green PROP1 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.29

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

Green PROP1 in Pituitary hormone deficiency


Version 2.0

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 1.27

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 1.2

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 0.346

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 2.0

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

Green PROP1 in DDG2P


Version 1.148

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 2.3

review Not set
Sources
  • Expert

Red PROP1 in Growth failure in early childhood


Version 1.3

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 2.1098

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 2.0

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