Early onset or syndromic epilepsy

Gene: BOLA3

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 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

• 24334290

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.

Green List (high evidence)

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