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Genetic epilepsy syndromes

Gene: TANC2

Amber List (moderate evidence)

TANC2 (tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2)
EnsemblGeneIds (GRCh38): ENSG00000170921
EnsemblGeneIds (GRCh37): ENSG00000170921
OMIM: 615047, Gene2Phenotype
TANC2 is in 3 panels

1 review

Rebecca Foulger (Genomics England curator)

Comment on list classification: Set rating of TANC2 to Amber. Not yet associated with a disorder in OMIM or Gene2Phenotype. One 2019 paper linking TANC2 with epilepsy in 11/20 cases: sufficient unrelated cases in PMID:31616000 but the pathogenicity of the variants has not been confirmed.
Created: 24 Oct 2019, 12:23 p.m. | Last Modified: 24 Oct 2019, 12:23 p.m.
Panel Version: 1.379
Added TANC2 to panel following curation of TANC2 on the Intellectual disability panel. PMID:31616000 (Guo et al, 2019) report 11/20 individuals with a TANC2 variant who had a formal diagnosis of epilepsy (n=9) or who suffered recurrent seizures (n=2).
Sources: Literature
Created: 24 Oct 2019, 12:21 p.m.

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

Phenotypes
NDD syndrome; Neurodevelopmental Disorder; Intellectual disability; Seizures; Epilepsy

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • NDD syndrome
  • Neurodevelopmental Disorder
  • Intellectual disability
  • Seizures
  • Epilepsy
OMIM
615047
Clinvar variants
Variants in TANC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Oct 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: tanc2 has been classified as Amber List (Moderate Evidence).

24 Oct 2019, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: TANC2 was added gene: TANC2 was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: TANC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TANC2 were set to 31616000 Phenotypes for gene: TANC2 were set to NDD syndrome; Neurodevelopmental Disorder; Intellectual disability; Seizures; Epilepsy