Congenital Heart Defect
Gene: SON

SON (SON DNA binding protein)
EnsemblGeneIds (GRCh38): ENSG00000159140
EnsemblGeneIds (GRCh37): ENSG00000159140
OMIM: 182465, Gene2Phenotype
SON is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

ZTTK syndrome is a severe multisystem developmental disorder characterised by intellectual disability, characteristic dysmorphic facial features, hypotonia, poor feeding, poor overall growth, and eye or visual abnormalities. Most individuals also have musculoskeletal abnormalities, and some have congenital defects of the heart and urogenital system. Brain imaging usually shows developmental abnormalities such as gyral changes, cortical and/or cerebellar atrophy, and thin corpus callosum.

More than 40 unrelated individuals reported.
Created: 27 Mar 2022, 7:28 a.m. | Last Modified: 27 Mar 2022, 7:28 a.m.

Panel Version: 0.209

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
ZTTK syndrome, MIM# 617140

Publications

Created: 27 Mar 2022, 7:28 a.m.
Last Modified: 27 Mar 2022, 7:28 a.m.
Panel version: 0.209

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

ZTTK syndrome, MIM# 617140

OMIM

182465

Clinvar variants

Variants in SON

Penetrance

None

Publications

Panels with this gene