Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ALOPECIA AND T-CELL IMMUNODEFICIENCY 601705 |
R-numbers: R15 Signed-off version 5.3 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes T-cell immunodeficiency, congenital alopecia, and nail dystrophy, OMIM:601705 (AR), T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant, OMIM:618806 (AD), T-B+ SCID, Severe infections, abnormal thymic epithelium, immunodeficiency, congenital alopecia, nail dystrophy, neural tube defect, Combined immunodeficiencies with associated or syndromic features |