Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
R-numbers: R57 Signed-off version 5.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes MENTAL RETARDATION, X-LINKED 3 309541, COBALAMIN DISORDER |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 6.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type), 309541 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes MENTAL RETARDATION, X-LINKED 3, COBALAMIN DISORDER |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Mental retardation, X-linked 3, 309541, MENTAL RETARDATION, X-LINKED 3, MRX3 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) 309541 |