Panel | Mode of inheritance | Details |
---|---|---|
10 panels | ||
Green in ArthrogryposisR-numbers: R83 Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410 |
Green in CleftingComponent of the following Super Panels:
Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes APERT SYNDROME |
Green in Common craniosynostosis syndromesR-numbers: R99 Signed-off version 1.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410, Apert syndrome 101200, Beare-Stevenson cutis gyrata syndrome 123790, Pfeiffer syndrome 101600, Craniofacial-skeletal-dermatologic dysplasia 101600, Crouzon syndrome 123500, Jackson-Weiss syndrome 123150, Saethre-Chotzen syndrome 101400, Scaphocephaly, maxillary retrusion, and mental retardation 609579 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes BEARE-STEVENSON CUTIS GYRATA SYNDROME 123790, ANTLEY-BIXLER SYNDROME 207410, FAMILIAL SCAPHOCEPHALY SYNDROME 609579, JACKSON-WEISS SYNDROME 123150, APERT SYNDROME 101200, CROUZON SYNDROME 123500, LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME 149730, ACROCEPHALOSYNDACTYLY TYPE V 101600 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes BEARE-STEVENSON CUTIS GYRATA SYNDROME, LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, JACKSON-WEISS SYNDROME, ACROCEPHALOSYNDACTYLY TYPE V, FAMILIAL SCAPHOCEPHALY SYNDROME, ANTLEY-BIXLER SYNDROME, CROUZON SYNDROME, APERT SYNDROME |
Green in HydrocephalusR-numbers: R86 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Apert syndrome, OMIM:101200, Crouzon syndrome, OMIM:123500 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410, Apert syndrome 101200, Beare-Stevenson cutis gyrata syndrome 123790, Bent bone dysplasia syndrome 614592, Craniofacial-skeletal-dermatologic dysplasia 101600, Craniosynostosis, nonspecific, Crouzon syndrome 123500, Gastric cancer, somatic 613659, Jackson-Weiss syndrome 123150, LADD syndrome 149730, Pfeiffer syndrome 101600, Saethre-Chotzen syndrome 101400, Scaphocephaly and Axenfeld-Rieger anomaly, Scaphocephaly, maxillary retrusion, and mental retardation 609579 |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Polydactyly, LADD syndrome 149730, LADD syndrome, 149730, Craniosynostosis, nonspecific Crouzon syndrome 123500, short radius, Craniofacial-skeletal-dermatologic dysplasia 101600, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410, Gastric cancer, somatic 613659, Beare-Stevenson cutis gyrata syndrome 123790, Jackson-Weiss syndrome 123150, Pfeiffer syndrome 101600, Bent bone dysplasia syndrome 614592, Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs, Apert syndrome 101200 |
R-numbers: R100 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Crouzon syndrome, 123500, Jackson-Weiss syndrome, 123150, Beare-Stevenson cutis gyrata syndrome, 123790, Pfeiffer syndrome, 101600, Apert syndrome, 101200, Saethre-Chotzen, Craniosynostosis, nonspecific syndrome, 101400, Gastric cance, Craniosynostosis |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Beare-Stevenson cutis gyrata syndrome 123790, Craniosynostosis, nonspecific Crouzon syndrome 123500, Craniofacial-skeletal-dermatologic dysplasia 101600, Pfeiffer syndrome 101600, Gastric cancer, somatic 613659, Jackson-Weiss syndrome 123150, LADD syndrome 149730, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410, Apert syndrome 101200, Bent bone dysplasia syndrome 614592 |