| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.89 | MMACHC | Bryony Thompson Marked gene: MMACHC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.89 | MMACHC | Bryony Thompson Gene: mmachc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.89 | MMACHC | Bryony Thompson Classified gene: MMACHC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.89 | MMACHC | Bryony Thompson Gene: mmachc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.88 | MMACHC |
Bryony Thompson gene: MMACHC was added gene: MMACHC was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMACHC were set to 35359513; 31203424; 31092259 Phenotypes for gene: MMACHC were set to methylmalonic aciduria and homocystinuria type cblC, MONDO:0010184 Review for gene: MMACHC was set to GREEN Added comment: PMID 31203424 reports 5 individuals with biallelic MMACHC missense/in‑frame deletion variants presenting with combined homocysteinemia, methylmalonic aciduria and prominent spastic paraplegia. PMID 31092259 adds 16 patients from 15 families with adult‑onset cblC disease; 11 families carry at least one biallelic loss‑of‑function MMACHC variant (nonsense or frameshift) and all display bilateral pyramidal tract spasticity, often misdiagnosed as hereditary spastic paraplegia. PMID 35359513 describes 2 affected siblings from a single Indian family homozygous for a truncating MMACHC loss‑of‑function allele, also with spastic ataxic paraparesis. Sources: Literature |
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