Genomics England
GMS Panels
Panels
Genes and Entities

ISCA-37433-Loss

22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
PanelMode of inheritanceDetails
4 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
188400, immune deficiency, renal anomalies, 22q11.2 deletion syndrome, 192430, facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay, cleft palate, polydactyly, polyhydramnios, Velocardiofacial syndrome, diaphragmatic hernia, DiGeorge syndrome, congenital heart disease, Learning difficulties
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Learning difficulties, immune deficiency, renal anomalies, cleft palate, polydactyly, 22q11.2 deletion syndrome, diaphragmatic hernia, 192430, polyhydramnios, DiGeorge syndrome, Velocardiofacial syndrome, 188400, facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay, congenital heart disease
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
188400, immune deficiency, renal anomalies, 22q11.2 deletion syndrome, 192430, facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay, cleft palate, polydactyly, polyhydramnios, Velocardiofacial syndrome, diaphragmatic hernia, DiGeorge syndrome, congenital heart disease, Learning difficulties
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
188400, immune deficiency, renal anomalies, 22q11.2 deletion syndrome, 192430, facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay, cleft palate, polydactyly, polyhydramnios, Velocardiofacial syndrome, diaphragmatic hernia, DiGeorge syndrome, congenital heart disease, Learning difficulties