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| Retinal disorders v2.243 | MMACHC | Ivone Leong Tag for-review was removed from gene: MMACHC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.243 | MMACHC | Ivone Leong commented on gene: MMACHC: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.243 | MMACHC |
Ivone Leong Source Expert Review Green was added to MMACHC. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v2.88 | MMACHC | Ivone Leong Classified gene: MMACHC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.88 | MMACHC | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There are >3 cases in the literature; therefore, there is enough evidence to support a gene-disease association. This gene has been rated Amber and should be given Green status at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.88 | MMACHC | Ivone Leong Gene: mmachc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.87 | MMACHC | Ivone Leong Tag for-review tag was added to gene: MMACHC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.87 | MMACHC | Ivone Leong Phenotypes for gene: MMACHC were changed from Methylmalonic aciduria and homocystinuria, cblC type MIM#277400 to Methylmalonic aciduria and homocystinuria, cblC type, OMIM:277400, MONDO:0010184 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.86 | MMACHC | Ivone Leong Publications for gene: MMACHC were set to 28481040 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.17 | MMACHC |
Zornitza Stark gene: MMACHC was added gene: MMACHC was added to Retinal disorders. 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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