Panel | Mode of inheritance | Details |
---|---|---|
11 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | 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 4.134 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Incontinentia pigmenti, 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 3.122 | 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 5.343 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Incontinentia pigmenti, type II, 308300Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301Immunodeficiency, isolated, 300584{Atypical mycobacteriosis, familial}, 300636Invasive pneumococcal disease, recurrent isolated, 2, 300640, INCONTINENTIA PIGMENTI (IP) |
R-numbers: R15 Signed-off version 4.123 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Immunodeficiency 33, 300636, Ectodermal dysplasia, hypohidrotic, with immune deficiency 300291, Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301, Immunodeficiency, isolated, 300584, Invasive pneumococcal disease, recurrent isolated, 2,300640, Defects of TLR/NFkappa-B signalling, Anhidrotic ectodermal dysplasia (in some), various infections (bacteria, mycobacteria, viruses and fungi), colitis, conical teeth, variable defects of skin, hair and teeth, monocyte dysfunction, Combined immunodeficiencies with associated or syndromic features |
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 4.42 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Incontinentia pigmenti, 308300 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 4.31 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Incontinentia pigmenti 308300, Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301 |