Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
R-numbers: R58 Signed-off version 7.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes McLeod syndrome with or without chronic granulomatous disease, OMIM:300842, McLeod neuroacanthocytosis syndrome, MONDO:0018945 |
R-numbers: R78 Signed-off version 6.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Mceod syndrome, Onset 25-60, acanthocytes and Huntington-like syndrome, also epilepsy, cardiomyopathy, axonal motor neuropathy, McLeod syndrome with or without chronic granulomatous disease, 300842 |
Green in Rare anaemiaR-numbers: R92 Signed-off version 3.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes McLeod syndrome with or without chronic granulomatous disease, OMIM:300842, McLeod neuroacanthocytosis syndrome, MONDO:0018945 |