| Panel | Mode of inheritance | Details |
|---|---|---|
8 panels | ||
R-numbers: R57 Signed-off version 4.3 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Mitochondrial complex I deficiency 252010 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 5.10 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Mitochondrial complex I deficiency, 252010 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 6.13 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Mitochondrial complex I deficiency, 252010, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY (NUCLEAR GENES) |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 5.6 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Mitochondrial complex I deficiency, 252010, Mitochondrial Diseases, Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits), Isolated complex I deficiency |
R-numbers: R353 Signed-off version 3.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Mitochondrial complex I deficiency, nuclear type 12, 301020 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 6.4 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Isolated complex I deficiency, Mitochondrial complex I deficiency, 252010, Mitochondrial Diseases |
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 Mitochondrial complex I deficiency, nuclear type 12, 301020 |