1. Genes and Genomic Entities
  2. ZCCHC8

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 6.424
Latest signed off version: v6.0 (30 Apr 2025)

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 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • 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 1.8
    Latest signed off version: v1.3 (30 Nov 2022)

    		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