Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes CONGENITAL HEART DEFECTS and XX sex reversal |
Green in Differences in sex developmentR-numbers: R146 Signed-off version 4.5 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes 46,XX sex reversal 5, OMIM:618901, 46,XX sex reversal 5, MONDO:0030049 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Congenital heart defects, multiple types, 4, 615779 |