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Genetic epilepsy syndromes

Gene: AP3B2

Green List (high evidence)

AP3B2 (adaptor related protein complex 3 beta 2 subunit)
EnsemblGeneIds (GRCh38): ENSG00000103723
EnsemblGeneIds (GRCh37): ENSG00000103723
OMIM: 602166, Gene2Phenotype
AP3B2 is in 4 panels

4 reviews

Rebecca Foulger (Genomics England curator)

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

Tracy Lester (Genetics laboratory, Oxford UK)

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

Arianna Tucci (Genomics England Curator)

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

Sarah Leigh (Genomics England Curator)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Literature
  • Literature
Phenotypes
  • Epileptic encephalopathy, early infantile, 48 617276
OMIM
602166
Clinvar variants
Variants in AP3B2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to AP3B2.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to AP3B2.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

17 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ap3b2 has been classified as Green List (High Evidence).

17 Jul 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: AP3B2 were set to 27889060

17 Jul 2018, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: AP3B2 were set to Epileptic encephalopathy, early infantile, 48 617276

17 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ap3b2 has been classified as Green List (High Evidence).

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to AP3B2. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to AP3B2. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

AP3B2 was added to Genetic Epilepsy Syndromes panel. Sources: Literature

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

AP3B2 was created by Sarah Leigh