Activity
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5 actions
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| Macular Dystrophy/Stargardt Disease v0.12 | TEAD1 | Zornitza Stark Marked gene: TEAD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macular Dystrophy/Stargardt Disease v0.12 | TEAD1 | Zornitza Stark Gene: tead1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macular Dystrophy/Stargardt Disease v0.12 | TEAD1 | Bryony Thompson Classified gene: TEAD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macular Dystrophy/Stargardt Disease v0.12 | TEAD1 | Bryony Thompson Gene: tead1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macular Dystrophy/Stargardt Disease v0.11 | TEAD1 |
Bryony Thompson gene: TEAD1 was added gene: TEAD1 was added to Macular Dystrophy/Stargardt Disease. Sources: Expert list Mode of inheritance for gene: TEAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TEAD1 were set to 15016762; 17689488; 30903741; 26091538 Phenotypes for gene: TEAD1 were set to Sveinsson chorioretinal atrophy MIM#108985 Review for gene: TEAD1 was set to AMBER Added comment: Heterozygous missense variant identified in a large Icelandic pedigree and some supporting functional assays. Same missense reported in another family with a clinical diagnosis of circumpapillary dysgenesis of the pigment epithelium (described as a form of macular degeneration). A de novo nonsense variant has also been reported in a case with Aicardi syndrome with infantile spasms, agenesis of the corpus callosum, and chorioretinal lacunae. Sources: Expert list |
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