Hereditary ataxia with onset in adulthood
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.Created: 15 Apr 2019, 10:21 a.m.
Evidence strong for MMA, however this does not seem to frequently feature cerebellar abnormalities or ataxia. Looks like a single family reported with ataxic phenotype (see PMID in publications). Green gene but may not be appropriate for this panelCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Methylmalonic aciduria and homocystinuria cblC type, 277400
Added phenotypes Methylmalonic aciduria and homocystinuria cblC type, 277400 for gene: MMACHC
Source NHS GMS was added to MMACHC.
Source Wessex and West Midlands GLH was added to MMACHC.
Checked panel against panel constituents. Ready to promote to version 1.
Phenotypes for gene: MMACHC were changed from Methylmalonic aciduria and homocystinuria (AR) (OMIM #277400); Ataxia and hypogonadism (AR) to Ataxia and hypogonadism; Methylmalonic aciduria and homocystinuria, cblC type, 277400
gene: MMACHC was added gene: MMACHC was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMACHC were set to 26283149 Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria (AR) (OMIM #277400); Ataxia and hypogonadism (AR)