Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in Congenital myaesthenic syndromeComponent of the following Super Panels:
R-numbers: R80 Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ?Myasthenic syndrome, congenital, 17, OMIM:616304 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes CENANI-LENZ SYNDACTYLY SYNDROME 212780 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes CENANI-LENZ SYNDACTYLY SYNDROME |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 6.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Cenani-Lenz syndactyly syndrome, OMIM:212780, CLSS, Cenani syndactyly, Cenani-Lenz syndactyly, Syndactyly type 7, Polydactyly |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 6.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Sclerosteosis 2 614305, Cenani-Lenz syndactyly syndrome 212780 |