Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes CSNK2A1 syndrome |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes CSNK2A1 syndrome, Okur-Chung neurodevelopmental syndrome, 617062 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 8.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Okur-Chung neurodevelopmental syndrome, OMIM:617062 |
Component of the following Super Panels:
Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Okur-Chung neurodevelopmental syndrome, OMIM:617062 |
Green in Severe microcephalyR-numbers: R88 Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Okur-Chung neurodevelopmental syndrome, OMIM:617062 |