Cerebral Palsy
Gene: SATB2
SATB2 (SATB homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000119042
EnsemblGeneIds (GRCh37): ENSG00000119042
OMIM: 608148, Gene2Phenotype
SATB2 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000119042
EnsemblGeneIds (GRCh37): ENSG00000119042
OMIM: 608148, Gene2Phenotype
SATB2 is in 10 panels
1 review
Luisa Weiss (University of Adelaide)
4 patients in 3 large CP cohort studies were found to have heterozygous de novo SATB2 mutations, three of which were nonsense and one was a missense mutation. Note that in one patient an additional acute perinatal event (neonatal compartment syndrome, intracranial hemorrhage) was present which might have added to the CP phenotype.
Sources: LiteratureCreated: 31 Jul 2023, 3:50 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Glass syndrome MIM#612313
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Glass syndrome MIM#612313
- OMIM
- 608148
- Clinvar variants
- Variants in SATB2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
1 Aug 2023, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: satb2 has been classified as Green List (High Evidence).
1 Aug 2023, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: satb2 has been classified as Green List (High Evidence).
31 Jul 2023, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: SATB2 was added gene: SATB2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SATB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SATB2 were set to 33528536; 35076175 Phenotypes for gene: SATB2 were set to Glass syndrome MIM#612313 Review for gene: SATB2 was set to GREEN