Early onset or syndromic epilepsy
Gene: TBCK
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
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.
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
Source Wessex and West Midlands GLH was added to TBCK.
Source NHS GMS was added to TBCK.
Zornitza Stark: Seizures are present in 30-40%
Gene: tbck has been classified as Green List (High Evidence).
Gene: tbck has been classified as Green List (High Evidence).
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
Publications for gene: TBCK were set to
Mode of inheritance for gene: TBCK was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Phenotypes for gene: TBCK were changed from to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3,616900
Expert Review Amber was added to TBCK. Panel: Genetic Epilepsy Syndromes
TBCK was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
TBCK was created by Sarah Leigh