Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes WNK3-related neurodevelopmental disorder, Prieto syndrome, OMIM:309610 |
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, biallelic mutations in females | Phenotypes Prieto syndrome, OMIM:309610, Intellectual disability, MONDO:0001071 |
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 Prieto syndrome, OMIM:309610, Intellectual disability, MONDO:0001071 |