| Panel | Mode of inheritance | Details |
|---|---|---|
7 panels | ||
Green in CleftingComponent of the following Super Panels:
Signed-off version 6.3 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORCK TYPE, MRXSBRK |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Syndromic ID with severe microcephaly |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 7.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes MEHMO syndrome, 300148 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes MEHMO syndrome, OMIM:300148, MEHMO syndrome, MONDO:0010258 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 8.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Mental retardation, X-linked, syndromic, Borck type, 300987 |
Green in Neonatal diabetesR-numbers: R143 Signed-off version 5.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes diabetes mellitus (disease), MONDO:0005015, MEHMO syndrome, OMIM:300148 |
Green in Severe microcephalyR-numbers: R88 Signed-off version 7.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes MEHMO syndrome, OMIM:300148 |