Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Class: BM failure syndrome (typ AR), Dyskeratosis congenita, MDS, AML, Oral and GI squamous cell carcinoma |
Green in Pulmonary fibrosis familialR-numbers: R421 Signed-off version 1.3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Pulmonary fibrosis-emphysema |