Clefting
Gene: SATB2
Cleft a clear feature. Reported cases have a mix of point mutation and larger deletion / duplications.Created: 26 May 2017, 7:17 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
GLASS SYNDROME; GLASS
Comment on list classification: Changed gene from status Amber to Green due to expert review, more than three cases report Glass SyndromeCreated: 20 Jan 2017, 9:04 a.m.
Comment on phenotypes: Added more phenotype terms for disorder from OMIM and from expert reviewer.Created: 19 Jan 2017, 4:45 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cleft palate; intellectual disability; poor- absent speech; bone fragility- raised serum alkaline phosphatase
Variants in this GENE are reported as part of current diagnostic practice
Victorian Clinical Genetics Services was added to SATB2. Panel: Clefting Phenotypes for gene SATB2 were set to 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
Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
Model of inheritance for gene SATB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for SATB2 were set to 16179223
Phenotypes for SATB2 were set to 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
Phenotypes for SATB2 were set to Glass syndrome; Orofacial Clefting with skeletal features; Cleft palate, intellectual disability, poor- absent speech, bone fragility- raised serum alkaline phosphatase
Mode of inheritance for SATB2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for SATB2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene SATB2 were set to Glass syndrome; Orofacial Clefting with skeletal features
This gene has been classified as Green List (High Evidence).
SATB2 was added to Cleftingpanel. Source: UKGTN
SATB2 was added to Cleftingpanel. Sources: Radboud University Medical Center, Nijmegen
SATB2 was created by oniblock