| Panel | Mode of inheritance | Details |
|---|---|---|
11 panels | ||
Green in DDG2PComponent of the following Super Panels:
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 SUSCEPTIBILITY TO X-LINKED FAMILIAL ATYPICAL MICOBACTERIOSIS TYPE 1 300636, IMMUNODEFICIENCY NEMO-RELATED WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA 300584, ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA 300301, ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY X-LINKED 300291, INCONTINENTIA PIGMENTI 308300 |
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, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Incontinentia pigmenti, OMIM:308300 |
Green in Ectodermal dysplasiaR-numbers: R163 Signed-off version 3.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Ectodermal Dysplasia, Hypohidrotic, With Immune Deficiency, Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301, {Atypical mycobacteriosis, familial}, 300636:Invasive pneumococcal disease, recurrent isolated, 2, 300640, Immunodeficiency, isolated, 300584, Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291, Incontinentia pigmenti, type II, 308300 |
R-numbers: R164 Signed-off version 2.2 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Incontinentia pigmenti, OMIM:308300 |
Green in Fetal anomaliesR-numbers: R21, R412 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 SUSCEPTIBILITY TO X-LINKED FAMILIAL ATYPICAL MICOBACTERIOSIS TYPE 1, INCONTINENTIA PIGMENTI, ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA, ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY X-LINKED, IMMUNODEFICIENCY NEMO-RELATED WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA |
Green in Incontinentia pigmentiR-numbers: R239 Signed-off version 1.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes |
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 Incontinentia pigmenti, OMIM:308300 |
R-numbers: R15 Signed-off version 7.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Ectodermal dysplasia and immunodeficiency 1, OMIM:300291, Immunodeficiency 33, OMIM:300636 |
Green in Primary lymphoedemaR-numbers: R136 Signed-off version 3.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301 |
Green in Retinal disordersR-numbers: R32 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 Incontinentia pigmenti, OMIM:308300 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 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 Ectodermal dysplasia and immunodeficiency 1, OMIM:300291 |