Panel | Mode of inheritance | Details |
---|---|---|
12 panels | ||
Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Noonan syndrome 3 609942, Cardiofaciocutaneous syndrome 2 615278 |
Green in Childhood solid tumoursR-numbers: R359 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Noonan syndrome 3 609942, Cardiofaciocutaneous syndrome 2 615278 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes CARDIOFACIOCUTANEOUS SYNDROME 115150, NOONAN SYNDROME TYPE 3 609942 |
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 2, 615278 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes NOONAN SYNDROME TYPE 3, 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 Lung cancer, somatic, 211980Bladder cancer, somatic, 109800Pancreatic carcinoma, somatic, 260350Gastric cancer, somatic, 137215Leukemia, acute myelogenousNoonan syndrome 3, 609942Cardiofaciocutaneous syndrome 2, 615278Breast cancer, somatic, 114480SFM syndrome, somatic mosaic, 163200, 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 2, OMIM:615278, Noonan syndrome 3, OMIM:609942 |
R-numbers: R327 Signed-off version 2.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Schimmelpenning syndrome, Epidermal naevi |
Component of the following Super Panels:
R-numbers: R135 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Noonan syndrome 3, Noonan syndrome, CFC syndrome, Cardiofaciocutaneous syndrome 2 615278, Noonan syndrome 3 609942, Cardiofaciocutaneous syndrome 2, 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 NOONAN SYNDROME 3, CARDIOFACIOCUTANEOUS SYNDROME 2, NOONAN SYNDROME 3, 609942, CFC2 |
Green in Primary lymphoedemaR-numbers: R136 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Noonan syndrome 3 609942, Cardiofaciocutaneous syndrome 2 615278 |
R-numbers: R100 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes cardiofaciocutaneous syndrome type 2 615278, Noonan syndrome type 3 609942, 615278, 609942 |