Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes RRAGC-related congenital dilated cardiomyopathy with hyperlactatemia, deranged liver function and cataracts |
Component of the following Super Panels:
R-numbers: R135 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Long-Olsen syndrome, OMIM:620609 |