| Panel | Mode of inheritance | Details |
|---|---|---|
8 panels | ||
Component of the following Super Panels:
Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Dyskeratosis congenita, autosomal dominant 3 613990 |
Green in Cytopenia - NOT Fanconi anaemiaR-numbers: R91 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Dyskeratosis congenita, autosomal dominant 3, 613990, Revesz syndrome, 268130, Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE |
Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | 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 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, Revesz syndrome, Dyskeratosis congenita, DKCA3, REVESZ SYNDROME |
Green in Pulmonary fibrosis familialR-numbers: R421 Signed-off version 1.3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Dyskeratosis congenita, autosomal dominant 3, OMIM:613990 |
Green in Retinal disordersR-numbers: R32 Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Revesz syndrome, 268130 |