Panel | Mode of inheritance | Details |
---|---|---|
12 panels | ||
Green in CleftingComponent of the following Super Panels:
Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Hartsfield syndrome, 615465, Hypogonadotropic hypogonadism 2 with or without anosmia, 147950, Kallmann syndrome 2 |
Green in Common craniosynostosis syndromesR-numbers: R99 Signed-off version 1.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Jackson-Weiss syndrome, Osteoglophonic dysplasia, Pfeiffer syndrome |
Green in CraniosynostosisR-numbers: R100 Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Craniosynostosis |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes PFEIFFER SYNDROME 101600, OSTEOGLOPHONIC DYSPLASIA 166250, Hartsfield syndrome 615465, KALLMANN SYNDROME TYPE 2 147950, IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM 146110, Encephalocraniocutaneous lipomatosis 613001 |
Green in Fetal anomaliesR-numbers: R21 Signed-off version 1.92 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM, OSTEOGLOPHONIC DYSPLASIA, PFEIFFER SYNDROME, KALLMANN SYNDROME TYPE 2, Hartsfield syndrome, Encephalocraniocutaneous lipomatosis |
Green in HoloprosencephalyComponent of the following Super Panels:
R-numbers: R85 Signed-off version 2.3 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Hartsfield syndrome, 615465 |
Green in HydrocephalusR-numbers: R86 Signed-off version 2.3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Pfeiffer syndrome 101600 |
R-numbers: R148 Signed-off version 1.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hypogonadotropic hypogonadism type 2(OMIM 147950) |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Encephalocraniocutaneous lipomatosis, somatic mosaism, 613001, Hartsfield syndrome, 615465, Hypogonadotropic hypogonadism 2 with or without anosmia, 147950, Jackson-Weiss syndrome, 123150, Osteoglophonic dysplasia, 166250, Pfeiffer syndrome,101600, Trigonocephaly 1,190440, Polydactyly |
R-numbers: R327 Signed-off version 1.3 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Epidermal naevi |
Green in Pituitary hormone deficiencyR-numbers: R159 Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Hypogonadotropic hypogonadism 2 with or without anosmia (147950), Hartsfield syndrome (615465), Pfeiffer syndrome (101600), Jackson-Weiss syndrome (123150) |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Hypogonadotropic hypogonadism 2 with or without anosmia 147950, Encephalocraniocutaneous lipomatosis, somatic mosaism 613001, Pfeiffer syndrome 101600, Trigonocephaly 1 190440, Hartsfield syndrome 615465, Jackson-Weiss syndrome 123150, Osteoglophonic dysplasia 166250 |