ZPR1

ZPR1 zinc finger
OMIM: 603901, Gene2Phenotype

6 panels

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


Version 4.6
Latest signed off version: v4.0 (22 Mar 2023)

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 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.30
Latest signed off version: v4.0 (22 Mar 2023)

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 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 5.7
Latest signed off version: v5.0 (1 May 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 Monogenic hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.41
Latest signed off version: v4.39 (1 May 2024)

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 Growth failure in early childhood


    Version 3.95
    Latest signed off version: v3.0 (22 Mar 2023)

    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 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 5.6
    Latest signed off version: v5.0 (1 May 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