ACD

ACD, shelterin complex subunit and telomerase recruitment factor
OMIM: 609377
PanelMode of inheritanceDetails
4 panels
R-numbers: R91
Signed-off version 2.1
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita, autosomal dominant 6, OMIM:616553, Dyskeratosis congenita, autosomal recessive 7, OMIM:616553
Signed-off version 3.3
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita, autosomal dominant 6, OMIM:616553, Dyskeratosis congenita, autosomal recessive 7, OMIM:616553, MDS, AML, Oral and GI squamous cell carcinoma
R-numbers: R15
Signed-off version 3.1
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita, autosomal dominant 6, OMIM:616553, Dyskeratosis congenita, autosomal recessive 7, OMIM:616553
R-numbers: R421
Signed-off version 1.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dyskeratosis congenita, autosomal dominant, OMIM:6