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Intellectual disability

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 7 panels

2 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Appropriate phenotype, sufficient cases
Created: 13 Nov 2017, 2:26 p.m.

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: 31 Oct 2017, 9:57 a.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
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, early infantile, 48 617276
OMIM
602166
Clinvar variants
Variants in AP3B2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

AP3B2 was added to Intellectual disability panel. Sources: Expert Review Green

29 Nov 2017, Gel status: 4

Created

Ellen McDonagh (Genomics England Curator)

AP3B2 was created by Ellen McDonagh