ISCA-37446-Loss

22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
PanelMode of inheritanceDetails
4 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
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
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.0
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
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
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 5.0
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