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  3. AP3B2
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Optic neuropathy

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 6 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark. AP3B2 is associated with a relevant disease in OMIM and probably associated with a relevant disease in Gene2Phenotype. PMID:27889060 describes 2 out of 8 families where individuals who have variants in this gene had optic disc/nerve pallor. Therefore, there is currently not enough evidence to support a gene-disease association. Therefore, this gene has been given an Amber rating.
Created: 14 Jul 2020, 3:15 p.m. | Last Modified: 6 Jan 2021, 1:35 p.m.
Panel Version: 2.28
Created: 14 Jul 2020, 3:15 p.m.
Last Modified: 6 Jan 2021, 1:35 p.m.
Panel version: 2.20

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Optic atrophy is a feature of this neurological disorder.
Sources: Expert list
Created: 16 Apr 2020, 12:19 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Early-onset epileptic encephalopathy with optic atrophy, MIM#617276

Publications

Created: 16 Apr 2020, 12:19 a.m.

Panel version: 2.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Developmental and epileptic encephalopathy 48, OMIM:617276, MONDO:0015000
Tags
watchlist
OMIM
602166
Clinvar variants
Variants in AP3B2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Jan 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: AP3B2 were changed from Epileptic encephalopathy, early infantile, 48, 617276 to Developmental and epileptic encephalopathy 48, OMIM:617276, MONDO:0015000

6 Jan 2021, Gel status: 2

Removed Tag, Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review was removed from gene: AP3B2. Tag watchlist tag was added to gene: AP3B2.

14 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: ap3b2 has been classified as Amber List (Moderate Evidence).

14 Jul 2020, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: AP3B2.

14 Jul 2020, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: AP3B2 were changed from Early-onset epileptic encephalopathy with optic atrophy, MIM#617276 to Epileptic encephalopathy, early infantile, 48, 617276

16 Apr 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: AP3B2 was added gene: AP3B2 was added to Optic neuropathy. Sources: Expert list 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 Early-onset epileptic encephalopathy with optic atrophy, MIM#617276 Review for gene: AP3B2 was set to GREEN