ACD

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green ACD in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.93

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 1.1891

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 0.57

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

Red ACD in NCGC


Version 0.2

review Other
Sources
  • NCGC
Phenotypes
  • NA