Pierre Robin Sequence
Gene: SATB2

SATB2 (SATB homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000119042
EnsemblGeneIds (GRCh37): ENSG00000119042
OMIM: 608148, Gene2Phenotype
SATB2 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Glass syndrome is characterized by intellectual disability of variable severity and dysmorphic facial features, including micrognathia, downslanting palpebral fissures, cleft palate, and crowded teeth. Additional features may include seizures, joint laxity, arachnodactyly, and happy demeanor. Over 100 unrelated individuals reported.
Created: 6 Jun 2021, 6:56 a.m. | Last Modified: 6 Jun 2021, 6:56 a.m.

Panel Version: 0.28

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Glass syndrome, MIM# 612313; MONDO:0100147

Publications

Created: 6 Jun 2021, 6:56 a.m.
Last Modified: 6 Jun 2021, 6:56 a.m.
Panel version: 0.28

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Glass syndrome, MIM# 612313
MONDO:0100147

OMIM

608148

Clinvar variants

Variants in SATB2

Penetrance

None

Publications

Panels with this gene