Early onset or syndromic epilepsy

Gene: TBC1D20

I don't know

Insufficient evidence- phenotype appears to be associated with Warburg micro syndrome (where seizures can occasionally occur).

Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.

Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Warburg micro syndrome 4, 615663

Publications

• 25476608

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Amber.

Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.

Panel Version: 1.189

Comment on list classification: Kept rating as Amber: Variants in TBC1D20 are currently probable in DD-G2P for causing Warburg micro syndrome 4. Warburg micro syndrome 4 can present with seizures, but currently only 2 unrelated families reported in PMID:24239381 (including febrile seizures in 1 patient). Therefore require further epileptic cases before rating as diagnostic.

Created: 12 Nov 2018, 3:17 p.m.

PMID:24239381 (Liegel et al 2013) report seizures as part of the clinical phenotype in 2 familes with TBC1D20 variants and Warburg micro syndrome 4 (Family 1 are Polish and Family 3 are Pakistani). For family 3 the seizures were recorded as febrile seizures for patient 3.1 and Status epilepticus followed by febrile seizures for patient 3.2.

Created: 12 Nov 2018, 3:10 p.m.

Green List (high evidence)

Seizures are part of the phenotype of this developmental disorder.

Created: 22 Aug 2018, 5:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Warburg micro syndrome 4, MIM#615663

Variants in this GENE are reported as part of current diagnostic practice