ZCCHC8

zinc finger CCHC-type containing 8
OMIM: 616381, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber ZCCHC8 in Familial pulmonary fibrosis

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.32

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ?Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5, OMIM:618674
Tags
  • watchlist
Red ZCCHC8 in DDG2P


Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • AUTOSOMAL RECESSIVE MENTAL RETARDATION
    Red ZCCHC8 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.13
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • AUTOSOMAL RECESSIVE MENTAL RETARDATION
    Green ZCCHC8 in Pulmonary Fibrosis, Familial


    Level 2: Respiratory
    Version 1.18
    Latest signed off version: v1.17 (12 Aug 2026)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5, OMIM:618674