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 Lesch-Nyhan syndrome, OMIM:300322, Dystonia |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes LESCH-NYHAN SYNDROME 300322, GOUT HPRT-RELATED 300323 |
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 Lesch-Nyhan syndrome, OMIM:300322 |
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 Hyperuricemia, HRPT-related, OMIM:300323, Lesch-Nyhan syndrome, OMIM:300322 |
Green in Nephrocalcinosis or nephrolithiasisR-numbers: R256 Signed-off version 4.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Hyperuricemia, HRPT-related, OMIM:300323, Lesch-Nyhan syndrome, OMIM:300322 |
R-numbers: R257 Signed-off version 5.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Lesch-Nyhan syndrome, OMIM:300322, Hyperuricemia, HRPT-related, OMIM:300323 |