Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in Cytopenia - NOT Fanconi anaemiaR-numbers: R91 Signed-off version 3.0 | 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 4.0 | 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 6.0 | 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 |
Green in Pulmonary fibrosis familialR-numbers: R421 Signed-off version 1.3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Dyskeratosis congenita, autosomal dominant, OMIM:616553 |