Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.15 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes NAD deficiency disorder |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.195 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Vertebral, cardiac, renal, and limb defects syndrome 1 617660 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.14 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Multiple congenital malformations, VACTERL-like phenotype |
Green in Monogenic hearing lossComponent of the following Super Panels:
R-numbers: R67 Signed-off version 4.51 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Multiple congenital malformations, VACTERL-like phenotype |
Component of the following Super Panels:
Signed-off version 1.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Vertebral, cardiac, renal, and limb defects syndrome 1, OMIM:617660 |