Optic neuropathy
Gene: AP3B2Comment 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
Optic atrophy is a feature of this neurological disorder.
Sources: Expert listCreated: 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
Phenotypes for gene: AP3B2 were changed from Epileptic encephalopathy, early infantile, 48, 617276 to Developmental and epileptic encephalopathy 48, OMIM:617276, MONDO:0015000
Tag for-review was removed from gene: AP3B2. Tag watchlist tag was added to gene: AP3B2.
Gene: ap3b2 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: AP3B2.
Phenotypes for gene: AP3B2 were changed from Early-onset epileptic encephalopathy with optic atrophy, MIM#617276 to Epileptic encephalopathy, early infantile, 48, 617276
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