| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital ophthalmoplegia v0.10 | CHN1 | Zornitza Stark Marked gene: CHN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.10 | CHN1 | Zornitza Stark Gene: chn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.10 | CHN1 | Zornitza Stark Classified gene: CHN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.10 | CHN1 | Zornitza Stark Gene: chn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.8 | CHN1 |
Shannon LeBlanc gene: CHN1 was added gene: CHN1 was added to Congenital fibrosis of the extraocular muscles. Sources: Literature Mode of inheritance for gene: CHN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHN1 were set to PMID 33004823; 18653847; 21555619 Phenotypes for gene: CHN1 were set to Duane retraction syndrome 2, 604356 Review for gene: CHN1 was set to GREEN Added comment: Gain-of function aetiology: PMID 18653847 - in vitro evidence that gain-of-function heterozygous missense CHN1 mutations in patients with Duane retraction syndrome increase α2-chimaerin RacGAP activity; 21555619 - separate CHN1 mutations 2 families predicted to result in its hyperactivation. Sources: Literature |
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