Early onset or syndromic epilepsy

Gene: POLG

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

I don't know

Kept rating as Green based on Green post-Webex review from Helen Lord.

Created: 9 Sep 2019, 10:38 a.m. | Last Modified: 9 Sep 2019, 10:38 a.m.

Panel Version: 1.320

Review and rating collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene was re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy.

Created: 5 Sep 2019, 2:26 p.m. | Last Modified: 9 Sep 2019, 10:38 a.m.

Panel Version: 1.320

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)

AD and AR PEO and AR mitochondrial DNA depletion syndrome. Epilepsy/seizures are a feature of mitochondrial DNA depletion 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
Mitochondrial DNA depletion syndrome 4A (Alpers type),203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type),613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE),607459; Progressive external ophthalmoplegia,157640; Progressive external ophthalmoplegia,258450

Publications

• 1663941
• 19578034

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial DNA depletion syndrome 4B (MNGIE type); Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)

Publications

• Naviaux & Nguyen (2004) Ann Neurol 55: 706-712
• Goethem et al (2003) Eur J Hum Genet 11: 547-549
• Goethen et al (2004) Neurology 63: 1251-1257

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

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial DNA depletion syndrome 4B (MNGIE type); Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)

Publications

• Naviaux & Nguyen (2004) Ann Neurol 55: 706-712
• Goethem et al (2003) Eur J Hum Genet 11: 547-549
• Goethen et al (2004) Neurology 63: 1251-1257

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

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial DNA depletion syndrome 4B (MNGIE type); Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)

Publications

• Naviaux & Nguyen (2004) Ann Neurol 55: 706-712
• Goethem et al (2003) Eur J Hum Genet 11: 547-549
• Goethen et al (2004) Neurology 63: 1251-1257

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

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial DNA depletion syndrome 4B (MNGIE type); Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)

Publications

• Naviaux & Nguyen (2004) Ann Neurol 55: 706-712
• Goethem et al (2003) Eur J Hum Genet 11: 547-549
• Goethen et al (2004) Neurology 63: 1251-1257

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

Comment when marking as ready: Confirmed DD gene and all 4 reviewers agree this should be green. Biallelic mode of inheritance and loss-of-function mechanism confirmed.

Created: 21 Jan 2016, 11:36 a.m.