1. Genes and Genomic Entities
  2. ZNHIT3

ZNHIT3

zinc finger HIT-type containing 3
OMIM: 604500, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Amber ZNHIT3 in Ataxia and cerebellar anomalies - childhood onset


Level 2: Neurology
Version 9.32
Latest signed off version: v9.22 (12 Aug 2026)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies, childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • PEHO syndrome, OMIM:260565
    • PEHO syndrome, MONDO:0009841
    Tags
    • Q3_26_promote_green
    • founder-effect
    Amber ZNHIT3 in Optic neuropathy


    Level 2: Ophthalmology
    Version 6.51
    Latest signed off version: v6.46 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • London North GLH
    Phenotypes
    • Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy
    • PEHO syndrome, OMIM:260565
    • PEHO syndrome, MONDO:0009841
    Tags
    • founder-effect
    Amber ZNHIT3 in Severe microcephaly


    Level 2: Neurology
    Version 9.26
    Latest signed off version: v9.13 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • Expert list
    Phenotypes
    • Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy
    • PEHO syndrome, OMIM:260565
    • PEHO syndrome, MONDO:0009841
    Tags
    • founder-effect
    Amber ZNHIT3 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.5
    Latest signed off version: v8.0 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • PEHO syndrome, OMIM:260565
    • PEHO syndrome
    Tags
    • founder-effect
    Amber ZNHIT3 in Paediatric disorders - additional genes


    Level 2: Developmental disorders
    Version 8.13
    Latest signed off version: v8.8 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • PEHO syndrome, OMIM:260565
    • PEHO syndrome, MONDO:0009841
    Tags
    • Q3_26_promote_green
    • founder-effect
    Amber ZNHIT3 in Primary lymphoedema


    Level 2: Cardiology
    Version 5.7
    Latest signed off version: v5.2 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Other
    Phenotypes
    • PEHO syndrome, OMIM:260565
    • PEHO syndrome, MONDO:0009841
    Tags
    • founder-effect
    • Q3_26_promote_green