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Genetic epilepsy syndromes

Gene: TBC1D20

Amber List (moderate evidence)

TBC1D20 (TBC1 domain family member 20)
EnsemblGeneIds (GRCh38): ENSG00000125875
EnsemblGeneIds (GRCh37): ENSG00000125875
OMIM: 611663, Gene2Phenotype
TBC1D20 is in 7 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

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

Rebecca Foulger (Genomics England curator)

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.

Zornitza Stark (Australian Genomics)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Warburg micro syndrome 4, 615663
  • seizures
Tags
watchlist
OMIM
611663
Clinvar variants
Variants in TBC1D20
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to TBC1D20.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to TBC1D20.

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are part of the pheno

12 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: tbc1d20 has been classified as Amber List (Moderate Evidence).

12 Nov 2018, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: TBC1D20.

12 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: tbc1d20 has been classified as Amber List (Moderate Evidence).

12 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: TBC1D20 were changed from Warburg micro syndrome 4, MIM#615663; seizures to Warburg micro syndrome 4, 615663; seizures

12 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: TBC1D20 were changed from to Warburg micro syndrome 4, MIM#615663; seizures

12 Nov 2018, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: TBC1D20 were set to

12 Nov 2018, Gel status: 2

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: TBC1D20 was changed from to BIALLELIC, autosomal or pseudoautosomal

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to TBC1D20. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

TBC1D20 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

TBC1D20 was created by Sarah Leigh