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| Macular Dystrophy/Stargardt Disease v1.0 | THRB | Gene migrated from ENSG00000151090 to ENSG00000151090 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macular Dystrophy/Stargardt Disease v0.62 | THRB | Zornitza Stark Marked gene: THRB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macular Dystrophy/Stargardt Disease v0.62 | THRB | Zornitza Stark Gene: thrb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macular Dystrophy/Stargardt Disease v0.62 | THRB | Zornitza Stark Classified gene: THRB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macular Dystrophy/Stargardt Disease v0.62 | THRB | Zornitza Stark Gene: thrb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macular Dystrophy/Stargardt Disease v0.61 | THRB |
Zornitza Stark gene: THRB was added gene: THRB was added to Macular Dystrophy/Stargardt Disease. Sources: Literature Mode of inheritance for gene: THRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: THRB were set to 40295579 Phenotypes for gene: THRB were set to Macular dystrophy, MONDO:0031166, THRB-related Review for gene: THRB was set to AMBER Added comment: 12 individuals with macular dystrophy from 3 families reported with variants in THRB. Two families had the variant NM_001354712.2:c.283 + 1G > A, and one the novel variant NM_001354712.2:c.283G > A. Splicing assays showed complete exon 5 skipping or a 6 bp deletion in both variants, possibly suggestive of GoF mechanism. Sources: Literature |
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