Panel | Mode of inheritance | Details |
---|---|---|
13 panels | ||
Green in CleftingComponent of the following Super Panels:
Signed-off version 4.102 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Pallister-Hall syndrome, 146510 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes PREAXIAL POLYDACTYLY TYPE IV 269157, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME 175700, POSTAXIAL POLYDACTYLY TYPE A 174200, PALLISTER-HALL SYNDROME 146510 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes PALLISTER-HALL SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, PREAXIAL POLYDACTYLY TYPE IV, POSTAXIAL POLYDACTYLY TYPE A |
Green in HydrocephalusR-numbers: R86 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Greig cephalopolysyndactyly syndrome, OMIM:175700 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Greig cephalopolysyndactyly syndrome, 175700Pallister-Hall syndrome, 146510Polydactyly, preaxial, type IV, 174700Polydactyly, postaxial, types A1 and B, 174200{Hypothalamic hamartomas, somatic}, 241800, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 4.13 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Greig cephalopolysyndactyly syndrome 175700, Pallister-Hall syndrome 146510, Polydactyly, postaxial, types A1 and B 174200, Polydactyly, preaxial, type IV 174700, {Hypothalamic hamartomas, somatic} 241800, Polydactyly |
Green in Neurological ciliopathiesComponent of the following Super Panels:
Signed-off version 3.15 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Joubert Syndrome and Senior-Loken Syndrome 24 gene panel |
Green in Ophthalmological ciliopathiesComponent of the following Super Panels:
Signed-off version 3.5 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Joubert Syndrome and Senior-Loken Syndrome 24 gene panel |
Green in Pituitary hormone deficiencyR-numbers: R159 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Greig cephalopolysyndactyly syndrome (175700), Pallister-Hall syndrome (146510) |
R-numbers: R100 Signed-off version 4.177 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Greig cephalopolysyndactyly syndrome 175700, 175700 |
Green in Skeletal ciliopathiesComponent of the following Super Panels:
Signed-off version 3.14 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Joubert Syndrome and Senior-Loken Syndrome 24 gene panel |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 4.31 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Greig cephalopolysyndactyly syndrome 175700, Polydactyly, postaxial, types A1 and B 174200, Polydactyly, preaxial, type IV 174700, Pallister-Hall syndrome 146510, {Hypothalamic hamartomas, somatic} 241800 |
R-numbers: R257 Signed-off version 3.11 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Pallister-Hall syndrome, Pallister-Hall syndrome 146510 |