Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.48 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes RRAGC-related congenital dilated cardiomyopathy with hyperlactatemia, deranged liver function and cataracts |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.80 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Long-Olsen syndrome, OMIM:620609 |
Component of the following Super Panels:
R-numbers: R135 Signed-off version 6.7 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Long-Olsen syndrome, OMIM:620609 |