Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in CleftingComponent of the following Super Panels:
Signed-off version 6.3 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Developmental delay with or without dysmorphic facies and autism, OMIM:618454 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Autism and Syndromic Intellectual Disability |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Developmental delay with or without dysmorphic facies and autism, OMIM:618454, multiple congenital anomalies |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 8.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Microcephaly, Seizures, Abnormal heart morphology, Autism, Developmental delay with or without dysmorphic facies and autism, 603015, Intellectual disability, Abnormality of the urinary system, Global developmental delay |