Early onset or syndromic epilepsy
Gene: TBC1D20
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
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.
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
Source Wessex and West Midlands GLH was added to TBC1D20.
Source NHS GMS was added to TBC1D20.
Zornitza Stark: Seizures are part of the pheno
Gene: tbc1d20 has been classified as Amber List (Moderate Evidence).
Tag watchlist tag was added to gene: TBC1D20.
Gene: tbc1d20 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: TBC1D20 were changed from Warburg micro syndrome 4, MIM#615663; seizures to Warburg micro syndrome 4, 615663; seizures
Phenotypes for gene: TBC1D20 were changed from to Warburg micro syndrome 4, MIM#615663; seizures
Publications for gene: TBC1D20 were set to
Mode of inheritance for gene: TBC1D20 was changed from to BIALLELIC, autosomal or pseudoautosomal
Expert Review Amber was added to TBC1D20. Panel: Genetic Epilepsy Syndromes
TBC1D20 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
TBC1D20 was created by Sarah Leigh