Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE 236270 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Homocystinuria-megaloblastic anemia, cbl E type, 236270{Neural tube defects, folate-sensitive, susceptibility to}, 601634, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE |
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 Homocystinuria-megaloblastic anemia, cbl E type |
Green in Rare anaemiaR-numbers: R92 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Homocystinuria-megaloblastic anemia, cbl E type, 236270, 236270 Homocystinuria-megaloblastic anemia, cbl E type |