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Early onset or syndromic epilepsy

Gene: TBCK

Green List (high evidence)
TBCK (TBC1 domain containing kinase)
EnsemblGeneIds (GRCh38): ENSG00000145348
EnsemblGeneIds (GRCh37): ENSG00000145348
OMIM: 616899, Gene2Phenotype
TBCK is in 4 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR infantile hypotonia with psychomotor retardation and characteristic facies. Alazami 2015 - sibs - had epilepsy as well as other features, Chong et al 2016 - 5 children from 4 unrelated families - seizures seen in 4 children from 4 families, Bhoj et al 13 patients from 9 unrelated families - 5 from 4 families had seizures.
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
Hypotonia infantile with psychomotor retardation and characteristic facies 3, 616900

Publications

Created: 6 Aug 2019, 8:31 p.m.
Last Modified: 6 Aug 2019, 8:31 p.m.
Panel version: 1.188

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: John Taylor and Helen Lord. Suggested gene rating: Green.
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: Updated rating from Amber to Green: Green review plus confirmed DD-G2P gene for Severe Infantile Syndromic Encephalopathy, which can present with seizures. Sufficient (>3) unrelated cases of seizures in PMID:27040692 and PMID:27040691 for inclusion on panel.
Created: 12 Nov 2018, 2:23 p.m.
Bhoj et al. (2016, PMID:27040691) reported 13 patients from 9 unrelated families with IHPRF. Seven individuals from five families had seizures, and biallelic variants in TBCK.
Created: 12 Nov 2018, 2:21 p.m.
Chong et al. (2016, PMID:27040692) reported 5 children from 4 unrelated families with profound developmental disability and additional symptoms. Seizures were reported in 4 patients from 3 families from Puerto Rico and Lebanon (seizures were focal, refractory, tonic, febrile and afebrile). The patients had homozygous variants in TBCK.
Created: 12 Nov 2018, 2:21 p.m.
Created: 12 Nov 2018, 2:21 p.m.

Panel version: 1.189

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are present in 30-40% of individuals with this neurodevelopmental disorder.
Created: 22 Aug 2018, 5:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM#616900

Publications

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

Created: 22 Aug 2018, 5:23 a.m.

Panel version: 0.335

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900
  • seizures
OMIM
616899
Clinvar variants
Variants in TBCK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to TBCK.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to TBCK.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are present in 30-40%

12 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: tbck has been classified as Green List (High Evidence).

12 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: tbck has been classified as Green List (High Evidence).

12 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: TBCK were changed from Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900; seizures

12 Nov 2018, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: TBCK were set to

12 Nov 2018, Gel status: 2

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

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

12 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: TBCK were changed from Hypotonia, infantile, with psychomotor retardation and characteristic facies 3,616900 to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900

12 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: TBCK were changed from to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3,616900

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

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

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

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

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

TBCK was created by Sarah Leigh