| Panel | Mode of inheritance | Details |
|---|---|---|
4 panels | ||
Green in CleftingComponent of the following Super Panels:
Signed-off version 6.3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes 188400, neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells, micrognathia, clefting, Hearing deficits, Velocardiofacial syndrome, cardiac malformations, DiGeorge syndrome |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes micrognathia, neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells, clefting, DiGeorge syndrome, Velocardiofacial syndrome, 188400, cardiac malformations, Hearing deficits |
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 neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells, micrognathia, clefting, Hearing deficits, Velocardiofacial syndrome, cardiac malformations, DiGeorge syndrome |
R-numbers: R15 Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes 188400, neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells, micrognathia, clefting, Hearing deficits, Velocardiofacial syndrome, cardiac malformations, DiGeorge syndrome |