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| Syndromic Retinopathy v0.196 | MMACHC | Zornitza Stark Tag treatable tag was added to gene: MMACHC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.52 | MMACHC | Bryony Thompson Marked gene: MMACHC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.52 | MMACHC | Bryony Thompson Gene: mmachc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.52 | MMACHC | Bryony Thompson Classified gene: MMACHC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.52 | MMACHC | Bryony Thompson Gene: mmachc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.51 | MMACHC |
Bryony Thompson gene: MMACHC was added gene: MMACHC was added to Syndromic Retinopathy. Sources: Expert list Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMACHC were set to 28481040 Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type MIM#277400 Review for gene: MMACHC was set to GREEN Added comment: Maculopathy/pigmentary retinopathy reported as a feature of the condition in at least 9 cases. Sources: Expert list |
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