Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fetal hydrops, S-adenosylhomocysteine hydrolase deficiency, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 |
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 Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752, Disorders of the metabolism of sulphur amino acids |