Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in Corneal dystrophyR-numbers: R262 Signed-off version 3.2 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Corneal dystrophy, posterior polymorphous, 4, OMIM:618031 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.15 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME 616029 |
Green in Ectodermal dysplasiaR-numbers: R163 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ectodermal dysplasia/short stature syndrome, OMIM:616029 |
Green in Monogenic hearing lossComponent of the following Super Panels:
R-numbers: R67 Signed-off version 4.51 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Deafness, autosomal dominant 28, OMIM:608641, Ectodermal dysplasia/short stature syndrome, OMIM:616029 |