Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
R-numbers: R31 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes LATHOSTEROLOSIS 607330 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes LATHOSTEROLOSIS |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Lathosterolosis, 607330, LATHOSTEROLOSIS (LATHST) |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Lathosterolosis, 607330, Intellectual disability, Cataracts |