Panel | Mode of inheritance | Details |
---|---|---|
7 panels | ||
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 4.134 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Microcephaly, epilepsy, and diabetes syndrome, 614231, MEDS |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Microcephaly, epilepsy, and diabetes syndrome 614231 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Microcephaly, epilepsy, and diabetes syndrome, 614231, MEDS, Intellectual disability |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Microcephaly, epilepsy, and diabetes syndrome, 614231, MEDS |
Green in Neonatal diabetesR-numbers: R143 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Microcephaly, epilepsy and diabetes syndrome, OMIM:614231 |
Component of the following Super Panels:
Signed-off version 3.7 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Microcephaly, epilepsy, and diabetes syndrome, 614231, MEDS |
Green in Severe microcephalyR-numbers: R88 Signed-off version 4.41 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Microcephaly, epilepsy, and diabetes syndrome, 614231, Microcephaly (-3 to -9 SD) |