Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
R-numbers: R15 Signed-off version 8.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Autoinflammation with arthritis and dyskeratosis, OMIM:617388, ?Respiratory papillomatosis, juvenile recurrent, congenital, OMIM:618803, Palmoplantar carcinoma, multiple self-healing, OMIM:615225, {Vitiligo-associated multiple autoimmune disease susceptibility 1}, OMIM:606579 |
R-numbers: R332 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes AIADK, AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS |