Callosome
Gene: SZT2

SZT2 (SZT2, KICSTOR complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000198198
EnsemblGeneIds (GRCh37): ENSG00000198198
OMIM: 615463, Gene2Phenotype
SZT2 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Developmental and epileptic encephalopathy-18 is a severe autosomal recessive neurologic disorder characterised by lack of psychomotor development apparent from birth, dysmorphic facial features, and early onset of refractory seizures. Brain imaging shows a thick corpus callosum and persistent cavum septum pellucidum. Numerous individuals reported with biallelic mutations.
Created: 22 Mar 2022, 9:13 p.m. | Last Modified: 22 Mar 2022, 9:13 p.m.

Panel Version: 0.410

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental and epileptic encephalopathy 18, OMIM #615476

Publications

Created: 22 Mar 2022, 9:13 p.m.
Last Modified: 22 Mar 2022, 9:13 p.m.
Panel version: 0.410

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Developmental and epileptic encephalopathy 18, OMIM #615476

OMIM

615463

Clinvar variants

Variants in SZT2

Penetrance

None

Publications

Panels with this gene