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 1.31

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 3.87
Latest signed off version: v3.1 (22 Mar 2023)

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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    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 3: Interstitial lung disorders
    Level 2: Respiratory disorders
    Version 1.7
    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