Activity
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15 actions
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| Neurodegenerative disorders, adult onset v1.106 | MMACHC | Louise Daugherty edited their review of gene: MMACHC: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.105 | MMACHC |
Louise Daugherty Source Expert Review Red was added to MMACHC. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Neurodegenerative disorders, adult onset v1.101 | MMACHC | Louise Daugherty commented on gene: MMACHC: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.100 | MMACHC | Louise Daugherty Source Wessex and West Midlands GLH was added to MMACHC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.99 | MMACHC | Tracy Lester reviewed gene: MMACHC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia and hypogonadism, Methylmalonic aciduria and homocystinuria, cblC type, 277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | MMACHC | Louise Daugherty commented on gene: MMACHC: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | MMACHC | Nick Beauchamp reviewed gene: MMACHC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia and hypogonadism, Methylmalonic aciduria and homocystinuria, cblC type, 277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.67 | MMACHC | Louise Daugherty Source Yorkshire and North East GLH was added to MMACHC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.11 | MMACHC | Louise Daugherty reviewed gene: MMACHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.10 | MMACHC | James Polke reviewed gene: MMACHC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.9 | MMACHC | Louise Daugherty Source NHS GMS was added to MMACHC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.8 | MMACHC | Louise Daugherty Source London North GLH was added to MMACHC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v0.127 | MMACHC | Louise Daugherty Phenotypes for gene: MMACHC were changed from Ataxia and hypogonadism (AR), Also Methylmalonic aciduria and homocystinuria (AR) (OMIM #277400) to Ataxia and hypogonadism; Methylmalonic aciduria and homocystinuria, cblC type, 277400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v0.126 | MMACHC | Louise Daugherty Publications for gene: MMACHC were set to PMID: 26283149 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v0.2 | MMACHC |
Rebecca Foulger gene: MMACHC was added gene: MMACHC was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMACHC were set to PMID: 26283149 Phenotypes for gene: MMACHC were set to Ataxia and hypogonadism (AR), Also Methylmalonic aciduria and homocystinuria (AR) (OMIM #277400) |
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