| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Macular Dystrophy/Stargardt Disease v0.43 | CDHR1 | Bryony Thompson Marked gene: CDHR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macular Dystrophy/Stargardt Disease v0.43 | CDHR1 | Bryony Thompson Gene: cdhr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macular Dystrophy/Stargardt Disease v0.43 | CDHR1 | Bryony Thompson Classified gene: CDHR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macular Dystrophy/Stargardt Disease v0.43 | CDHR1 | Bryony Thompson Gene: cdhr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macular Dystrophy/Stargardt Disease v0.42 | CDHR1 |
Bryony Thompson gene: CDHR1 was added gene: CDHR1 was added to Macular Dystrophy/Stargardt Disease. Sources: Expert list Mode of inheritance for gene: CDHR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDHR1 were set to 32681094; 31387115; 35627310 Phenotypes for gene: CDHR1 were set to Genetic macular dystrophy MONDO:0020242 Review for gene: CDHR1 was set to GREEN gene: CDHR1 was marked as current diagnostic Added comment: >10 individuals with late-onset macular dystrophy reported, mainly with c.783G>A (synonymous variant leading to in-frame skipping of exon 8) in the homozygous state or compound heterozygous with a second pathogenic variant in CDHR1 Sources: Expert list |
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