Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Genetic Epilepsy

Gene: SHANK3

Green List (high evidence)

SHANK3 (SH3 and multiple ankyrin repeat domains 3)
EnsemblGeneIds (GRCh38): ENSG00000251322
EnsemblGeneIds (GRCh37): ENSG00000251322
OMIM: 606230, Gene2Phenotype
SHANK3 is in 12 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Seizures listed in OMIM, SHANK3 is often involved in a 22q13.3 deletion

PMID: 37655421 - Proband with a PTC, presenting with epileptic seizures, impaired speech development

PMID: 36967043 - large review, considered patients who had the 22q13.3 deletion as well as SNVs. Prevalence of epilepsy ranged from 17-70% in one study, 27% in another study and 41% in another. Seizure type was highly variable, ranging from atypical absent, tonic, atonic, tonic-clonic and myoclonic.
Sources: Literature
Created: 1 Feb 2024, 10:56 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Phelan-McDermid syndrome MIM#606232

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Phelan-McDermid syndrome MIM#606232
OMIM
606230
Clinvar variants
Variants in SHANK3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2024, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: shank3 has been classified as Green List (High Evidence).

1 Feb 2024, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: shank3 has been classified as Green List (High Evidence).

1 Feb 2024, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: shank3 has been classified as Green List (High Evidence).

1 Feb 2024, Gel status: 1

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

Elena Savva (Victorian Clinical Genetics Services)

gene: SHANK3 was added gene: SHANK3 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SHANK3 were set to PMID: 37655421 Phenotypes for gene: SHANK3 were set to Phelan-McDermid syndrome MIM#606232 Review for gene: SHANK3 was set to GREEN