Early onset or syndromic epilepsy
Gene: TMEM70
AR mitochondrial complex V deficiency - on OMIM it says that seizures are uncommon.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 complex V (ATP synthase) deficiency nuclear type 2, 614052
Publications
As discussed with members of the GMS Neurology Specialist Test Group on the Webex call 22nd November 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is insufficient evidence to rate this gene Green. Insufficient seizure evidence. Demoted from Green to Amber.Created: 25 Nov 2019, 9:11 p.m. | Last Modified: 25 Nov 2019, 9:11 p.m.
Panel Version: 1.461
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: Amber.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, and Confirmed DD-G2P gene for Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 which can present with seizures. Seizures reported in 3 unrelated patients from the literature (2 in PMID:18953340 and 1 in PMID:21147908) so just sufficient cases for Green rating.Created: 8 Nov 2018, 9:46 a.m.
In 6 patients from 4 unrelated consanguineous Arab-Muslim families with MC5DN2, Spiegel et al. (2011, PMID:21147908) identified 4 different homozygous mutations in the TMEM70 gene. Patient IV-1 developed generalised seizures at age 13.Created: 8 Nov 2018, 9:42 a.m.
In affected individuals from 6 Romani families with neonatal mitochondrial encephalocardiomyopathy associated with complex V (ATP synthase) deficiency (MC5DN2; 614052), Cizkova et al. (2008, PMID:18953340) identified a homozygous splicing variant in the TMEM70 gene (c.317-2A-G). The same homozygous mutation was identified in 23 additional patients. Patient 1 had Status epilepticus, and Patient 5 developed epileptic spasms at the age of 3 years (Table 1 and text).Created: 8 Nov 2018, 9:42 a.m.
Seizures are part of the phenotype in this mitochondrial disorder.Created: 22 Aug 2018, 5:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM#614052
Variants in this GENE are reported as part of current diagnostic practice
Gene: tmem70 has been classified as Amber List (Moderate Evidence).
Source Wessex and West Midlands GLH was added to TMEM70.
Source NHS GMS was added to TMEM70.
Zornitza Stark: Seizures are part of the pheno
Gene: tmem70 has been classified as Green List (High Evidence).
Publications for gene: TMEM70 were set to
Gene: tmem70 has been classified as Green List (High Evidence).
Mode of inheritance for gene: TMEM70 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for gene: TMEM70 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM70 were changed from to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052; seizures
Expert Review Amber was added to TMEM70. Panel: Genetic Epilepsy Syndromes
TMEM70 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
TMEM70 was created by Sarah Leigh