Early onset or syndromic epilepsy
Gene: TANC2

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

2 reviews

Ida Ertmanska (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There are numerous patients reported in literature with heterozygous TANC2 variants and epilepsy. Epilepsy was the sole presenting feature in some cases. Hence, TANC2 should be promoted to Green at the next GMS update.
Created: 12 Mar 2026, 12:55 p.m. | Last Modified: 12 Mar 2026, 12:55 p.m.

Panel Version: 8.143

PMID: 40110879 Luo et al., 2025
Trio exome, Chinese cohort of epilepsy patients. De novo TANC2 variants were identified in six unrelated childhood-onset cases (4 null and 2 missense). Patients with null variants exhibited severe phenotypes: 3 with epilepsy and neurodevelopmental disorders, 1 individual with developmental and epileptic encephalopathy (DEE). In contrast, the patients with missense variants presented with only epilepsy.

PMID: 34861844 Tian et al., 2021
Case report of a Chinese boy (1yr 11 mo) with Lennox-Gastaut syndrome (LGS), a severe epileptic encephalopathy. WES + Sanger detected a de novo c.4321C > T(p.Gln1441Ter) mutation in TANC2.

TANC2 is linked to AD Intellectual developmental disorder with autistic features and language delay, with or without seizures, MIM:618906 (OMIM accessed 12th Mar 2026).
Created: 12 Mar 2026, 12:42 p.m. | Last Modified: 12 Mar 2026, 12:49 p.m.

Panel Version: 8.139

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual developmental disorder with autistic features and language delay, with or without seizures, OMIM:618906

Publications

Created: 12 Mar 2026, 12:42 p.m.
Last Modified: 12 Mar 2026, 12:49 p.m.
Panel version: 8.139

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

31616000

Created: 24 Oct 2019, 12:21 p.m.

Panel version: 1.378

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Literature

Phenotypes

Intellectual developmental disorder with autistic features and language delay, with or without seizures, OMIM:618906
intellectual developmental disorder with autistic features and language delay, with or without seizures, MONDO:0030051

Tags

Q1_26_promote_green

OMIM

615047

Clinvar variants

Variants in TANC2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

18 Mar 2026, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: TANC2 were changed from Intellectual developmental disorder with autistic features and language delay, with or without seizures, OMIM:618906 to Intellectual developmental disorder with autistic features and language delay, with or without seizures, OMIM:618906; intellectual developmental disorder with autistic features and language delay, with or without seizures, MONDO:0030051

12 Mar 2026, Gel status: 2