Early onset or syndromic epilepsy
Gene: AP3B2
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 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
Associated with Epileptic encephalopathy in OMIMCreated: 5 Jul 2018, 2:07 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy early infantile 48,617276
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
Source Wessex and West Midlands GLH was added to AP3B2.
Source NHS GMS was added to AP3B2.
Sarah Leigh: Associated with phenotype in O
Gene: ap3b2 has been classified as Green List (High Evidence).
Publications for gene: AP3B2 were set to 27889060
Phenotypes for gene: AP3B2 were set to Epileptic encephalopathy, early infantile, 48 617276
Gene: ap3b2 has been classified as Green List (High Evidence).
Expert Review Amber was added to AP3B2. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to AP3B2. Panel: Genetic Epilepsy Syndromes
AP3B2 was added to Genetic Epilepsy Syndromes panel. Sources: Literature
AP3B2 was created by Sarah Leigh