POU1F1

POU class 1 homeobox 1
OMIM: 173110, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green POU1F1 in IUGR and IGF abnormalities

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

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • GH, PRL deficiencies
  • variable degree of TSH deficiency

Green POU1F1 in Pituitary hormone deficiency


Version 2.0

review BOTH monoallelic and 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, 1 (613038)

Green POU1F1 in Fetal anomalies


Version 0.348

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • POU1F1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY

No list POU1F1 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 POU1F1 in DDG2P


Version 1.148

Component of the following Super Panels:

  • Paediatric disorders v4.401
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • POU1F1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 613038

    Red POU1F1 in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.4

    review Not set
    Sources
    • Expert

    Red POU1F1 in Growth failure in early childhood


    Version 1.3

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • GH, PRL deficiencies
    • variable degree of TSH deficiency

    Amber POU1F1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.1102

    Component of the following Super Panels:

  • Paediatric disorders v4.401
  • White matter disorders - childhood onset v4.233
  • Hypotonic infant with a likely central cause v3.1053
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Amber
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Gene2Phenotype confirmed gene with ID HPO

    Green POU1F1 in Congenital hypothyroidism

    Level 3: Thyroid disorders
    Level 2: Endocrine disorders
    Version 2.0

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Pituitary hormone deficiency, combined, 1, 613038 (Hypopthyroidism)
    • congenital hypothyroidism