| Panel | Mode of inheritance | Details |
|---|---|---|
7 panels | ||
R-numbers: R57 Signed-off version 5.4 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes HSD10 mitochondrial disease, OMIM:300438 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.15 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 10 300220, 2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE DEFICIENCY 300438 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 6.9 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes HSD10 mitochondrial disease, OMIM:300438 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.51 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes HSD10 mitochondrial disease, OMIM:300438 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.14 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes HSD10 mitochondrial disease, OMIM:300438 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 7.4 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes HSD10 mitochondrial disease, OMIM:300438 |
R-numbers: R63 Signed-off version 3.105 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes HSD10 mitochondrial disease, OMIM:300438 |