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Clefting disorders
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, 6:54 a.m. | Last Modified: 6 Jun 2021, 6:54 a.m.

Panel Version: 0.121

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Glass syndrome, MIM# 612313; MONDO:0100147

Publications

Created: 6 Jun 2021, 6:54 a.m.
Last Modified: 6 Jun 2021, 6:54 a.m.
Panel version: 0.121

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services
Radboud University Medical Center, Nijmegen
UKGTN

Phenotypes

Glass syndrome, MIM# 612313
MONDO:0100147

OMIM

Clinvar variants

Variants in SATB2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

6 Jun 2021, 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).

6 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SATB2 were changed from Glass syndrome; GLASS SYNDROME; Cleft palate; GLASS; Cleft palate, intellectual disability, poor- absent speech, bone fragility- raised serum alkaline phosphatas; Chromosome 2q32-q33 deletion syndrome; Orofacial Clefting with skeletal features to Glass syndrome, MIM# 612313; MONDO:0100147

6 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SATB2 were set to 16179223

6 Jun 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SATB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

16 Sep 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SATB2 was added gene: SATB2 was added to Clefting_GEL. Sources: Expert Review Green,UKGTN,Radboud University Medical Center, Nijmegen,Victorian Clinical Genetics Services Mode of inheritance for gene: SATB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SATB2 were set to 16179223 Phenotypes for gene: SATB2 were set to Glass syndrome; GLASS SYNDROME; Cleft palate; GLASS; Cleft palate, intellectual disability, poor- absent speech, bone fragility- raised serum alkaline phosphatas; Chromosome 2q32-q33 deletion syndrome; Orofacial Clefting with skeletal features