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Gene: AP3B2

Amber List (moderate evidence)

AP3B2 (adaptor related protein complex 3 beta 2 subunit)
EnsemblGeneIds (GRCh38): ENSG00000103723
EnsemblGeneIds (GRCh37): ENSG00000103723
OMIM: 602166, Gene2Phenotype
AP3B2 is in 7 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable.
Created: 19 Nov 2018, 11:29 a.m.


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • DD-Gene2Phenotype
  • Expert Review Amber
  • Epileptic Encephalopathy with Optic Atrophy
Clinvar variants
Variants in AP3B2
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: AP3B2 was added gene: AP3B2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: AP3B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP3B2 were set to 27889060 Phenotypes for gene: AP3B2 were set to Epileptic Encephalopathy with Optic Atrophy