ZPR1

ZPR1 zinc finger
OMIM: 603901, Gene2Phenotype

7 panels

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


Level 2: Neurology
Version 5.12
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 6.42
Latest signed off version: v6.0 (6 May 2026)

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 9.3
Latest signed off version: v9.0 (6 May 2026)

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


Level 2: Fetal (including NIPD)
Version 7.10
Latest signed off version: v7.0 (6 May 2026)

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


Level 2: Audiology
Version 6.15
Latest signed off version: v6.0 (6 May 2026)

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 9.3
    Latest signed off version: v9.0 (6 May 2026)

    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 2.1
    Latest signed off version: v2.0 (6 May 2026)

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