Neurodegenerative disorders - adult onsetGene: MMADHC
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.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Onset in infancy
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Methylmalonic aciduria, cblD type, variant 2; 277410
Source NHS GMS was added to MMADHC.
Source Yorkshire and North East GLH was added to MMADHC.
Rebecca Foulger: Gene awaiting curator evaluati
gene: MMADHC was added gene: MMADHC was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: MMADHC was set to Unknown Phenotypes for gene: MMADHC were set to Dystonia