SATB2

PanelMode of inheritanceDetails
5 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.3
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 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
NONSPECIFIC SEVERE ID, CLEFT PALATE ISOLATED 119540, SYNDROMAL PIERRE ROBIN SEQUENCE
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Glass syndrome, OMIM:612313
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
NONSPECIFIC SEVERE ID, SYNDROMAL PIERRE ROBIN SEQUENCE, CLEFT PALATE ISOLATED
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cleft palate and mental retardation, 119540, CLEFT PALATE ISOLATED (CPI)