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| Retinal disorders v2.52 | AP3B2 | Ivone Leong Classified gene: AP3B2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.52 | AP3B2 |
Ivone Leong Added comment: 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. |
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| Retinal disorders v2.52 | AP3B2 | Ivone Leong Gene: ap3b2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.51 | AP3B2 | Ivone Leong Phenotypes for gene: AP3B2 were changed from Early-onset epileptic encephalopathy with optic atrophy to Developmental and epileptic encephalopathy 48, OMIM:617276, MONDO:0015000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.17 | AP3B2 |
Zornitza Stark 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 Added comment: 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 |
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