Panel | Mode of inheritance | Details |
---|---|---|
11 panels | ||
Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Costello syndrome |
Green in Childhood solid tumoursR-numbers: R359 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Costello syndrome, Costello syndrome, 218040 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES 218040, COSTELLO SYNDROME 218040 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 5.10 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Costello syndrome, 218040, Schimmelpenning-Feuerstein-Mims syndrome, 218040 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 6.13 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes {Bladder cancer, somatic}, 109800Costello syndrome, 218040{Thyroid carcinoma, follicular, somatic}, 188470Congenital myopathy with excess of muscle spindles, 218040{Nevus sebaceous, somatic}, 162900Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200, COSTELLO SYNDROME |
Green in Monogenic short statureR-numbers: R453 Signed-off version 1.1 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Costello syndrome, OMIM:218040 |
R-numbers: R327 Signed-off version 2.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Woolly hair, Phakomatosis pigmentokeratotica, Costello syndrome, Schimmelpenning syndrome, Epidermal naevi |
Component of the following Super Panels:
R-numbers: R135 Signed-off version 4.3 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Costello syndrome, syndromic HCM |
Green in Pigmentary skin disordersR-numbers: R236 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes CSTLO, Costello syndrome, Phakomatosis pigmentokeratotica, Epidermal naevi, Woolly hair, Schimmelpenning syndrome, COSTELLO SYNDROME |
Green in Primary lymphoedemaR-numbers: R136 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Costello syndrome 218040 |