ZPR1

ZPR1 zinc finger
OMIM: 603901, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red ZPR1 in Hydrocephalus


Level 2: Neurology
Version 5.8
Latest signed off version: v5.0 (7 Aug 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • ?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321
Tags
  • founder-effect
Red ZPR1 in Optic neuropathy


Level 2: Ophthalmology
Version 5.48
Latest signed off version: v5.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • ?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321
Tags
  • founder-effect
Red ZPR1 in Severe microcephaly


Level 2: Neurology
Version 8.31
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • ?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321
Tags
  • founder-effect
Red ZPR1 in Monogenic hearing loss


Level 2: Audiology
Version 5.57
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • ?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321
    Tags
    • founder-effect
    Red ZPR1 in Retinal disorders


    Level 2: Ophthalmology
    Version 8.86
    Latest signed off version: v8.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Red
    Phenotypes
    • ?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321
    Tags
    • founder-effect
    Red ZPR1 in Monogenic short stature


    Level 2: Endocrinology
    Version 1.31
    Latest signed off version: v1.0 (7 Aug 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • ?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321
    Tags
    • founder-effect