SATB2

SATB homeobox 2
OMIM: 608148, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green SATB2 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.181 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes NONSPECIFIC SEVERE ID SYNDROMAL PIERRE ROBIN SEQUENCE CLEFT PALATE ISOLATED
Green SATB2 in DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NONSPECIFIC SEVERE ID CLEFT PALATE ISOLATED 119540 SYNDROMAL PIERRE ROBIN SEQUENCE
Green SATB2 in Clefting Level 2: Musculoskeletal Version 6.23 Latest signed off version: v6.5 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green UKGTN Radboud University Medical Center, Nijmegen 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 SATB2 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.167 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes Glass syndrome, OMIM:612313
Green SATB2 in Intellectual disability Level 2: Developmental disorders Version 9.345 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cleft palate and mental retardation, 119540 CLEFT PALATE ISOLATED (CPI)