Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Vertebral, cardiac, renal, and limb defects syndrome 2 617661 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism), VACTERL-like phenotype, multiple congenital malformations, ?Hydroxykynureninuria, 236800 |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 6.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Vertebral, cardiac, renal, and limb defects syndrome 2, OMIM:617661, hand hyperphalangism |
Component of the following Super Panels:
Signed-off version 1.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Vertebral, cardiac, renal, and limb defects syndrome 2, OMIM:617661 |