PanelApp
  1. Genes and Genomic Entities
  2. ACD

ACD

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

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green ACD in Haematological malignancies


Level 2: Cancer susceptibility
Version 0.148

2 reviews BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Curated sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 7, OMIM:616553
  • Dyskeratosis congenita, autosomal dominant 6, OMIM:616553
  • MDS, AML
  • Oral and GI squamous cell carcinoma

Green ACD in Bone Marrow Failure


Level 2: Haematological disorders
Version 2.9

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  3 reviews 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 2.588

    		2 reviews 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 Pulmonary Fibrosis_Interstitial Lung Disease


    Level 2: Respiratory disorders
    Version 2.5

    		2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148

    Green ACD in Hereditary Pigmentary Disorders


    Level 2: Dermatological disorders
    Version 2.0

    		2 reviews BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Victorian Clinical Genetics Services
    Phenotypes
    • ACD-related short telomere syndrome MONDO:0100569