Genomics England
GMS Panels
Panels
Genes and Entities

SATB2

SATB homeobox 2
OMIM: 608148
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
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 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
NONSPECIFIC SEVERE ID, CLEFT PALATE ISOLATED 119540, SYNDROMAL PIERRE ROBIN SEQUENCE
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
NONSPECIFIC SEVERE ID, SYNDROMAL PIERRE ROBIN SEQUENCE, CLEFT PALATE ISOLATED
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, NOT imprinted
Phenotypes
Cleft palate and mental retardation, 119540, CLEFT PALATE ISOLATED (CPI)