| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hereditary Neuropathy v2.63 | MMACHC | Zornitza Stark Marked gene: MMACHC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v2.63 | MMACHC | Zornitza Stark Gene: mmachc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v2.55 | MMACHC | Sangavi Sivagnanasundram Classified gene: MMACHC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v2.55 | MMACHC | Sangavi Sivagnanasundram Gene: mmachc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v2.54 | MMACHC |
Sangavi Sivagnanasundram gene: MMACHC was added gene: MMACHC was added to Hereditary Neuropathy. Sources: Literature Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMACHC were set to 35109910; 33324334; 33000330; 32208535; 31092259; 25672861 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: Biallelic variants in MMACHC cause methylmalonic aciduria and homocystinuria type cblC. Neuropathy (particularly peripheral neuropathy (sensorimotor polyneuropathy)) is a presenting feature in affected individuals, accompanied by cognitive impairment, psychiatric symptoms, renal dysfunction and gait disturbance. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||