Adult onset movement disorderGene: MMADHC
This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED
Created: 19 Jun 2019, 4:39 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 12:18 p.m.
Dystonia is not a predominant feature of syndromes; unable to find reference to dystonia associated with the gene outside of these syndromes.
Created: 23 Apr 2019, 12:14 p.m.
Homocystinuria, cblD type, variant 1; Methylmalonic aciduria, cblD type, variant 2; Methylmalonic aciduria and homocystinuria, cblD type, 277410
Added phenotypes Methylmalonic aciduria, cblD type, variant 2; Homocystinuria, cblD type, variant 1; Methylmalonic aciduria and homocystinuria, cblD type, 277410 for gene: MMADHC Publications for gene MMADHC were changed from to 20301503
Source NHS GMS was added to MMADHC.
Source South West GLH was added to MMADHC.
gene: MMADHC was added gene: MMADHC was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: MMADHC was set to Phenotypes for gene: MMADHC were set to Dystonia