Early onset or syndromic epilepsy
Gene: TBC1D24
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
AR early infantile epileptic encephaalopathy and infantile myoclonic epilepsy (Also see AD and AR deafness and AR DOORS syndrome). DOORS is a deafness and seizure syndrome.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
Deafness , 614617; Deafness, 616044; DOORS syndrome 220500; Epileptic encephalopathy, early infantile, 615338; Myoclonic epilepsy, infantile, familial 605021
Publications
Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene for DOORS syndrome 220500, Epileptic encephalopathy, early infantile, 16 615338 and Myoclonic epilepsy, infantile, familial 605021. At least 9 variants reportedCreated: 4 Apr 2018, 4:03 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 16; Myoclonic epilepsy, infantile, familial
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 16; Myoclonic epilepsy, infantile, familial
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 16; Myoclonic epilepsy, infantile, familial
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 16; Myoclonic epilepsy, infantile, familial
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Not this phenotype - syndromicCreated: 8 May 2016, 7:01 p.m.
Source Wessex and West Midlands GLH was added to TBC1D24.
Source NHS GMS was added to TBC1D24.
Richard Scott: Comment on list classification
NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to TBC1D24. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to TBC1D24. Panel: Genetic Epilepsy Syndromes
Phenotypes for TBC1D24 were set to DOORS syndrome 220500; Epileptic encephalopathy, early infantile, 16 615338; Myoclonic epilepsy, infantile, familial 605021
This gene has been classified as Green List (High Evidence).
Publications for TBC1D24 were set to 20797691; 23343562; 24291220; 10741954; 20727515
Publications for TBC1D24 were set to 20797691; 23343562
TBC1D24 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert,UKGTN,Radboud University Medical Center, Nijmegen
TBC1D24 was created by Sarah Leigh