Panel | Mode of inheritance | Details |
---|---|---|
7 panels | ||
Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Dyskeratosis congenita, autosomal recessive 3, 613988 |
Green in Childhood solid tumoursR-numbers: R359 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Dyskeratosis congenita, autosomal recessive 3, 613988 |
Green in Cytopenia - NOT Fanconi anaemiaR-numbers: R91 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Dyskeratosis congenita, autosomal recessive 3, 613988, 613988 Dyskeratosis congenita, autosomal recessive 3, Dyskeratosis Congenita, Recessive, 300299 Neutropenia, severe congenital, X-linked, Dyskeratosis congenita, Dyskeratosis Congenita, Autosomal Recessive, 3, Inherited Bone Marrow Failure Syndromes |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.15 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3 613988 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.195 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3 |
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 |
Green in Pigmentary skin disordersR-numbers: R236 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Dyskeratosis congenita, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3, DKCB3 |