Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes TIETZ SYNDROME, OMIM:103500, WAARDENBURG SYNDROME TYPE 2A, OMIM:193510, Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness, OMIM:617306 |
Green in Monogenic hearing lossComponent of the following Super Panels:
R-numbers: R67 Signed-off version 4.50 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Waardenburg syndrome, type 2A, 193510, Waardenburg syndrome/ocular albinism, digenic, 103470, Tietz albinism-deafness syndrome, 103500, {Melanoma, cutaneous malignant, susceptibility to, 8}, 614456 |
Green in Pigmentary skin disordersR-numbers: R236 Signed-off version 3.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes COMMAD, WAARDENBURG SYNDROME, TYPE 2A, COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS, Waardenburg syndrome, WS2A |
Green in Structural eye diseaseR-numbers: R36 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes COMMAD syndrome, 617306, Waardenburg syndrome, type 2a, WS2A, 193510 |