Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes BRACHYDACTYLY-SYNDACTYLY SYNDROME 610713, VACTERL ASSOCIATION 192350, BRACHYDACTYLY TYPE E 113300, SYNPOLYDACTYLY 1 186000, SYNDACTYLY TYPE 5 186300, BRACHYDACTYLY TYPE D 113200 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes SYNPOLYDACTYLY 1, BRACHYDACTYLY TYPE D, BRACHYDACTYLY-SYNDACTYLY SYNDROME, BRACHYDACTYLY TYPE E, VACTERL ASSOCIATION, SYNDACTYLY TYPE 5 |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 5.4 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Brachydactyly-syndactyly syndrome 610713, Brachydactyly, type D 113200, Brachydactyly, type E 113300, Syndactyly, type V 186300, Synpolydactyly 1 186000, Polydactyly |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 5.3 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Syndactyly, type V 186300, Brachydactyly-syndactyly syndrome 610713, Brachydactyly, type E 113300, Synpolydactyly 1 186000, Brachydactyly, type D 113200 |