Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 257300 |
Green in Fetal anomaliesR-numbers: R21 Signed-off version 1.92 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 |
Green in HydrocephalusR-numbers: R86 Signed-off version 2.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mosaic variegated aneuploidy syndrome 1 257300 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 3.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Colorectal cancer, somatic, 114500Mosaic variegated aneuploidy syndrome 1, 257300[Premature chromatid separation trait], 176430, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MVA1 |
R-numbers: R359 Signed-off version 2.5 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mosaic variegated aneuploidy syndrome 1 257300, 257300 |