Genomics England
GMS Panels
Panels
Genes and Entities

ISCA-37446-Loss

22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
PanelMode of inheritanceDetails
5 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.8
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 epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
Signed-off version 9.56
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 disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
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
Green
in Neurodegenerative disorders, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 9.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
DiGeorge syndrome, OMIM:188400, Parkinsonism, HP:0001300
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 9.91
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