ACD

ACD, shelterin complex subunit and telomerase recruitment factor
OMIM: 609377
PanelMode of inheritanceDetails
3 panels
R-numbers: R91
Signed-off version 1.29
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
616553 ?Dyskeratosis congenita 6 and 7
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Class: BM failure syndrome (typ AR), Dyskeratosis congenita, MDS, AML, Oral and GI squamous cell carcinoma
R-numbers: R15
Signed-off version 2.1
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita 6, 616553, Dyskeratosis congenita 7, 616553, Hoyeraal-Hreidarsson syndrome