Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in CleftingComponent of the following Super Panels:
Signed-off version 5.3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292, Hay-Wells syndrome, OMIM:106260, Limb-mammary syndrome, OMIM:603543, Orofacial cleft 8, OMIM:618149, Rapp-Hodgkin syndrome, OMIM:129400, Split-hand/foot malformation 4, OMIM:605289 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | 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 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes ADULT syndrome, OMIM:103285, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292, Hay-Wells syndrome, OMIM:106260, Limb-mammary syndrome, OMIM:603543, Orofacial cleft 8, OMIM:618149, Rapp-Hodgkin syndrome, OMIM:129400, Split-hand/foot malformation 4, OMIM:605289 |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 5.4 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes ADULT syndrome, OMIM:103285, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292, Limb-mammary syndrome, OMIM:603543, Split-hand/foot malformation 4, OMIM:605289 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 5.3 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes ADULT syndrome, OMIM:103285, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292, Limb-mammary syndrome, OMIM:603543, Split-hand/foot malformation 4, OMIM:605289 |