Early onset or syndromic epilepsy
Gene: BOLA3
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 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia - charecterised by severe developmental regression in infancy- aff children have an encephalopathic disease course with seizures, spasticity, loss of head control and abnormal movement. Sedya et al, 2001 - male infant born of 1st cousin East Indian parents - seizures at 4 months, died at 11 months - hom truncating mutation. Baker et al, 2014 - 3 unrelated children (Caucasian, Indian and African American descent) 2/3 had seizures died 7, months, 22 months and 11 years - all had hom truncating mutation R46*.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
Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, 614299
Publications
Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least one truncating variant reported in 2 ethnically diverse unrelated cases of Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia 614299. Supportive in vitro studies show are also presented (PMID 24334290).Created: 12 Nov 2018, 4:01 p.m.
Mitochondrial encephalopathy, seizures are part of the phenotype.Created: 8 Aug 2018, 1:21 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex III deficiency, nuclear type 1, MIM#124000
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to BOLA3.
Source NHS GMS was added to BOLA3.
Zornitza Stark: Mitochondrial encephalopathy,
Gene: bola3 has been classified as Green List (High Evidence).
Gene: bola3 has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: BOLA3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BOLA3 were set to
Phenotypes for gene: BOLA3 were changed from to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia 614299
Expert Review Amber was added to BOLA3. Panel: Genetic Epilepsy Syndromes
BOLA3 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
BOLA3 was created by Sarah Leigh