Early onset or syndromic epilepsy

Gene: TBC1D24

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

Green List (high evidence)

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

• 27281533

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 reported

Created: 4 Apr 2018, 4:03 p.m.

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 16; Myoclonic epilepsy, infantile, familial

Publications

• Guven & Tolun (2013) J Med Genet 50: 199_202
• Corbett et al (2010) Am J Hum Genet 87: 371_375

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

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 16; Myoclonic epilepsy, infantile, familial

Publications

• Guven & Tolun (2013) J Med Genet 50: 199_202
• Corbett et al (2010) Am J Hum Genet 87: 371_375

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

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 16; Myoclonic epilepsy, infantile, familial

Publications

• Guven & Tolun (2013) J Med Genet 50: 199_202
• Corbett et al (2010) Am J Hum Genet 87: 371_375

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

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 16; Myoclonic epilepsy, infantile, familial

Publications

• Guven & Tolun (2013) J Med Genet 50: 199 202
• Corbett et al (2010) Am J Hum Genet 87: 371 375

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

Comment on list classification: Not this phenotype - syndromic

Created: 8 May 2016, 7:01 p.m.