Retinal disordersGene: AP3B2
Comment on list classification: New gene added by Zornitza Stark. This gene is associated with an eye phenotype in Gene2Phenotype but not in OMIM. PMID:27889060 describes 1 out of 8 families where individuals who have variants in this gene had retinitis pigmentosa and mild optic disc pallor. This gene is also Amber on the Optic neuropathy panel (Version 2.29).
Therefore, there is currently not enough evidence to support a gene-disease association, this gene has been given a Red rating.
Created: 6 Jan 2021, 1:45 p.m. | Last Modified: 6 Jan 2021, 1:45 p.m.
Panel Version: 2.52
8 different families reported with EE - poor vision reported in all, specifically optic pallor 4/6, and retinal pigment changes in 2/6.
Sources: Expert list
Created: 10 Oct 2020, 5:29 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Early-onset epileptic encephalopathy with optic atrophy
Gene: ap3b2 has been classified as Red List (Low Evidence).
Phenotypes for gene: AP3B2 were changed from Early-onset epileptic encephalopathy with optic atrophy to Developmental and epileptic encephalopathy 48, OMIM:617276, MONDO:0015000
gene: AP3B2 was added gene: AP3B2 was added to Retinal disorders. 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 Review for gene: AP3B2 was set to GREEN