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  3. AP3B2
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Optic Atrophy

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 8 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

8 different families reported with EE - poor vision reported for ALL relatives with bilallelic AP3B2 variants (mostly PTCs but also splice).

Eye defects were reported for some individuals (optic pallor 4/6, retinal pigment changes 2/6)
Overall optical defects were reported in ~4 families
Created: 9 Apr 2020, 1 a.m. | Last Modified: 9 Apr 2020, 1 a.m.
Panel Version: 0.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Early-onset epileptic encephalopathy with optic atrophy

Publications

Created: 9 Apr 2020, 1 a.m.
Last Modified: 9 Apr 2020, 1 a.m.
Panel version: 0.11

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Early-onset epileptic encephalopathy with optic atrophy, MIM#617276
OMIM
602166
Clinvar variants
Variants in AP3B2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AP3B2 were set to 27889060

9 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AP3B2 were changed from to Early-onset epileptic encephalopathy with optic atrophy, MIM#617276

9 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AP3B2 were set to

9 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: AP3B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AP3B2 was added gene: AP3B2 was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AP3B2 was set to Unknown