Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes FRAGILE X TREMOR/ATAXIA SYNDROME, OMIM:300623, PREMATURE OVARIAN FAILURE SYNDROME TYPE 1, OMIM:311360, FRAGILE X SYNDROME, OMIM:300624 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Fragile X syndrome, OMIM:300624, Fragile X tremor/ataxia syndrome, OMIM:300623 |