| Panel | Mode of inheritance | Details |
|---|---|---|
3 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes NOP10-related dyskeratosis congenita, OMIM:224230 |
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | 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 1.9 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Dyskeratosis congenita, autosomal recessive 1, OMIM:224230 |