PanelApp
  1. Genes and Genomic Entities
  2. ACD

ACD

ACD, shelterin complex subunit and telomerase recruitment factor
OMIM: 609377, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green ACD in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • telomere syndrome MONDO:0100137
    • dyskeratosis congenita, autosomal dominant 6 MONDO:0014690
    • Hoyeraal-Hreidarsson syndrome MONDO:0018045

    Green ACD in Mendeliome


    Version 1.2374

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • telomere syndrome MONDO:0100137
    • dyskeratosis congenita, autosomal dominant 6 MONDO:0014690
    • Hoyeraal-Hreidarsson syndrome MONDO:0018045

    Amber ACD in Pulmonary Fibrosis_Interstitial Lung Disease


    Level 2: Respiratory disorders
    Version 0.87

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148