| Panel | Mode of inheritance | Details |
|---|---|---|
2 panels | ||
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Pyruvate kinase deficiency, OMIM:266200 |
Green in Rare anaemiaR-numbers: R92 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Enzyme Disorder, PYRUVATE KINASE DEFICIENCY, Pyruvate kinase deficiency, 266200 PYRUVATE KINASE DEFICIENCY, 266200 Pyruvate kinase deficiency, Pyruvate kinase deficiency, 266200 |