Early onset or syndromic epilepsy

Gene: AP3B2

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 EIEE 48 - characterised by global dev delay with ID, absent speech, poor motor development and onset of seizures in first year of life. Assoum et al, 2016 - 12 patients from 8 unrelated families, various ethnic orginis and 6 consang. All patients developed seizures before 9 months of age except 1 who had no histroy of seizures aged 4. Hom or compound het splice site, nonsense or fs mutations identifed - analysis of cells from 3 families suggested LOF. Anazi et al, 2017 - 3 children, 2 unrelated consang families - early onset seizures noted in 2 patients. Hom truncating variant identified in 2 unrelated patients of consang parents - no functional work done. Haplotype analysis suggest a common origin.

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
Epileptic encephalopathy, early infantile, 617276

Publications

• 27889060

Green List (high evidence)

Associated with Epileptic encephalopathy in OMIM

Created: 5 Jul 2018, 2:07 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy early infantile 48,617276

Green List (high evidence)

Associated with phenotype in OMIM and as a probable G2P. At least 6 variants reported in at least 6 unrelated cases.

Created: 19 Dec 2017, 4:42 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 48 617276

Publications

• 27889060