Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in CleftingComponent of the following Super Panels:
Signed-off version 6.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Holoprosencephaly 13, X-linked, OMIM:301043, Mullegama-Klein-Martinez syndrome, OMIM:301022 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes STAG2-related developmental delay with microcephaly and congenital anomalies |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes STAG2-related developmental delay with microcephaly and congenital anomalies |
Green in Holoprosencephaly - NOT chromosomalComponent of the following Super Panels:
R-numbers: R85 Signed-off version 5.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Holoprosencephaly 13, X-linked OMIM:301043 |
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 STAG2-related developmental delay with microcephaly and congenital anomalies, STAG2-related X-linked Intellectual Deficiency, cohesinopathy, Global developmental delay, Intellectual disability, Abnormality of head or neck, Microcephaly, Growth delay, Hearing impairment, Abnormal heart morphology |