Clefting
Gene: SATB2EnsemblGeneIds (GRCh38): ENSG00000119042
EnsemblGeneIds (GRCh37): ENSG00000119042
OMIM: 608148, Gene2Phenotype
SATB2 is in 5 panels
3 reviews
Helen Brittain (Genomics England Curator)
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
Louise Daugherty (Genomics England Curator)
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.
Usha Kini (Oxford Centre for Genomic Medicine)
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
Details
- Mode of Inheritance
- 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
- OMIM
- 608148
- Clinvar variants
- Variants in SATB2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Added New Source, Set penetrance
Ellen McDonagh (Genomics England Curator)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 promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SATB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set publications
Louise Daugherty (Genomics England Curator)Publications for SATB2 were set to 16179223
Set Phenotypes
Louise Daugherty (Genomics England Curator)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
Set Phenotypes
Louise Daugherty (Genomics England Curator)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
Set Mode of Inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for SATB2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Mode of Inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for SATB2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene SATB2 were set to Glass syndrome; Orofacial Clefting with skeletal features
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Olivia Niblock (Genomics England Curator)SATB2 was added to Cleftingpanel. Source: UKGTN
Added New Source
Olivia Niblock (Genomics England Curator)SATB2 was added to Cleftingpanel. Sources: Radboud University Medical Center, Nijmegen
Created
Olivia Niblock (Genomics England Curator)SATB2 was created by oniblock