Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes CARDIOFACIOCUTANEOUS SYNDROME 115150 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Cardiofaciocutaneous syndrome 4, 615280 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes CARDIOFACIOCUTANEOUS SYNDROME |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 8.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Cardiofaciocutaneous syndrome 4, 615280, CARDIOFACIOCUTANEOUS SYNDROME (CFC SYNDROME) |
Green in Monogenic short statureR-numbers: R453 Signed-off version 1.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Cardiofaciocutaneous syndrome 4, OMIM:615280 |
Component of the following Super Panels:
R-numbers: R135 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Cardio-Facio-Cutaneous syndrome type 4, CFC syndrome, Cardiofaciocutaneous syndrome 4 615280, Cardiofaciocutaneous syndrome 4, syndromic HCM, Cardiofaciocutaneous Syndrome, Cardio-Facio-Cutaneous syndrome |
Green in Pigmentary skin disordersR-numbers: R236 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes CARDIOFACIOCUTANEOUS SYNDROME 4, 615280 |
Green in Primary lymphoedemaR-numbers: R136 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Cardiofaciocutaneous syndrome 4 615280 |