SATB2

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
Glass syndrome, Chromosome 2q32-q33 deletion syndrome, Orofacial Clefting with skeletal features, Cleft palate, intellectual disability, poor- absent speech, bone fragility- raised serum alkaline phosphatas, GLASS SYNDROME, GLASS, Cleft palate
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
NONSPECIFIC SEVERE ID, CLEFT PALATE ISOLATED 119540, SYNDROMAL PIERRE ROBIN SEQUENCE
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
NONSPECIFIC SEVERE ID, SYNDROMAL PIERRE ROBIN SEQUENCE, CLEFT PALATE ISOLATED
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, NOT imprinted
Phenotypes
Cleft palate and mental retardation, 119540, CLEFT PALATE ISOLATED (CPI)