| Panel | Mode of inheritance | Details |
|---|---|---|
5 panels | ||
Green in Cytopenia - NOT Fanconi anaemiaR-numbers: R91 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Dyskeratosis congenita, autosomal recessive 2, 613987 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.15 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 613987 |
Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Class: BM failure syndrome (typ AR), Dyskeratosis congenita, MDS, AML, Bone marrow failure, macrocytosis, Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma |
R-numbers: R15 Signed-off version 6.12 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Dyskeratosis congenita, autosomal recessive 2 613987, Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome, Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients, Combined immunodeficiencies with associated or syndromic features |
Green in Pulmonary fibrosis familialR-numbers: R421 Signed-off version 1.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Dyskeratosis congenita, autosomal recessive 2, OMIM:613987 |