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 2.2
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
R-numbers: R59
Signed-off version 2.2
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
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
R-numbers: R15
Signed-off version 2.1
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