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Genetic Epilepsy

Gene: SART3

Green List (high evidence)
SART3 (squamous cell carcinoma antigen recognized by T-cells 3)
EnsemblGeneIds (GRCh38): ENSG00000075856
EnsemblGeneIds (GRCh37): ENSG00000075856
OMIM: 611684, Gene2Phenotype
SART3 is in 4 panels

2 reviews

Krithika Murali (Victorian Clinical Genetics Services)

Comment when marking as ready: PMID: 37296101 - 3 individuals from 3 unrelated families reported with seizures.
Created: 6 Jul 2023, 3:19 a.m. | Last Modified: 6 Jul 2023, 3:19 a.m.
Panel Version: 0.1867
Created: 6 Jul 2023, 3:19 a.m.
Last Modified: 6 Jul 2023, 3:19 a.m.
Panel version: 0.1867

Daniel Flanagan (Victorian Clinical Genetics Services)

Green List (high evidence)

Nine individuals from six families presenting with intellectual disability, global developmental delay, a subset of brain anomalies, together with gonadal dysgenesis in 46,XY individuals. Additionally, two individuals had seizures and two had epileptiform activity reported on EEG.

Human induced pluripotent stem cells carrying patient variants in SART3 show disruption to multiple signalling pathways, upregulation of spliceosome components and demonstrate aberrant gonadal and neuronal differentiation in vitro.
Sources: Expert list
Created: 6 Jul 2023, 3:05 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder (MONDO#0700092), SART3-related; 46,XY disorder of sex development (MONDO:0020040), SART3-related

Publications

Created: 6 Jul 2023, 3:05 a.m.

Panel version: 0.1867

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder (MONDO#0700092), SART3-related
  • 46,XY disorder of sex development (MONDO:0020040), SART3-related
OMIM
611684
Clinvar variants
Variants in SART3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sart3 has been classified as Green List (High Evidence).

6 Jul 2023, Gel status: 0

Entity classified by Genomics England curator

Krithika Murali (Victorian Clinical Genetics Services)

Gene: sart3 has been removed from the panel.

6 Jul 2023, Gel status: 0

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

Daniel Flanagan (Victorian Clinical Genetics Services)

gene: SART3 was added gene: SART3 was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: SART3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SART3 were set to PMID: 37296101 Phenotypes for gene: SART3 were set to Neurodevelopmental disorder (MONDO#0700092), SART3-related; 46,XY disorder of sex development (MONDO:0020040), SART3-related Review for gene: SART3 was set to GREEN