| Panel | Mode of inheritance | Details |
|---|---|---|
6 panels | ||
Green in CleftingComponent of the following Super Panels:
Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3, 604292, Orofacial cleft 8, EEC SYNDROME 3, Rapp Hodgkins syndrome, 129400, EEC syndrome (Ectrodactyly, Ectodermal dysplasia and Clefting), AEC (Ankyloblepharon filiforme adnatum, Ectodermal defects and Clefting), Hay Wells syndrome 106260, Limb-mammary syndrome, 603543, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, EEC3, Cleft lip |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.1 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE 129400, NON-SYNDROMIC OROFACIAL CLEFT TYPE 8 129400, SPLIT-HAND/FOOT MALFORMATION TYPE 4 605289, ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE 106260, ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3 604292, LIMB-MAMMARY SYNDROME 603543, ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME 103285 |
Green in Ectodermal dysplasiaR-numbers: R163 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Limb-mammary syndrome, 603543, Rapp-Hodgkin Syndrome, ADULT syndrome, 103285, Orofac, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292, Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate, Orofacial cleft 8, 129400, Hay-Wells syndrome, 106260, ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3, Split-Hand/foot Malformation 4, Split-hand/foot malformation 4, 605289, ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE, Rapp-Hodgkin syndrome, 129400, Limb-Mammary Syndrome, ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE, Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/palate Syndrome 3, Adult Syndrome |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE, ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3, SPLIT-HAND/FOOT MALFORMATION TYPE 4, ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE, LIMB-MAMMARY SYNDROME, NON-SYNDROMIC OROFACIAL CLEFT TYPE 8, ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes ULT syndrome 103285, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292, Hay-Wells syndrome 106260, Limb-mammary syndrome 603543, Orofacial cleft 8 129400, Rapp-Hodgkin syndrome 129400, Split-hand/foot malformation 4 605289 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Rapp-Hodgkin syndrome 129400, Orofacial cleft 8 129400, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292, Hay-Wells syndrome 106260, ULT syndrome 103285, Split-hand/foot malformation 4 605289, Limb-mammary syndrome 603543 |