Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.29 | AP3B2 | Ivone Leong Phenotypes for gene: AP3B2 were changed from Epileptic encephalopathy, early infantile, 48, 617276 to Developmental and epileptic encephalopathy 48, OMIM:617276, MONDO:0015000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.28 | AP3B2 |
Ivone Leong Tag for-review was removed from gene: AP3B2. Tag watchlist tag was added to gene: AP3B2. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.28 | AP3B2 | Ivone Leong changed review comment from: 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. There is enough evidence for this gene to be Green; however, until the next major review this gene will be rated as Amber for now.; to: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.20 | AP3B2 | Ivone Leong Classified gene: AP3B2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.20 | AP3B2 | Ivone Leong Added comment: 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. There is enough evidence for this gene to be Green; however, until the next major review this gene will be rated as Amber for now. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.20 | AP3B2 | Ivone Leong Gene: ap3b2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.19 | AP3B2 | Ivone Leong Tag for-review tag was added to gene: AP3B2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.19 | AP3B2 | Ivone Leong Phenotypes for gene: AP3B2 were changed from Early-onset epileptic encephalopathy with optic atrophy, MIM#617276 to Epileptic encephalopathy, early infantile, 48, 617276 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.3 | AP3B2 |
Zornitza Stark 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 Added comment: Optic atrophy is a feature of this neurological disorder. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||