Genes in panel

Adult onset movement disorder

Gene: MMADHC

Red List (low evidence)

MMADHC (methylmalonic aciduria and homocystinuria, cblD type)
EnsemblGeneIds (GRCh38): ENSG00000168288
EnsemblGeneIds (GRCh37): ENSG00000168288
OMIM: 611935, Gene2Phenotype
MMADHC is in 11 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

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.

Emily Jones (North Bristol NHS Trust)

Red List (low evidence)

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.

Phenotypes
Homocystinuria, cblD type, variant 1; Methylmalonic aciduria, cblD type, variant 2; Methylmalonic aciduria and homocystinuria, cblD type, 277410

Publications

Details

Sources
  • NHS GMS
  • South West GLH
  • Expert Review Red
Phenotypes
  • Methylmalonic aciduria, cblD type, variant 2
  • Homocystinuria, cblD type, variant 1
  • Methylmalonic aciduria and homocystinuria, cblD type, 277410
  • Dystonia
OMIM
611935
Clinvar variants
Variants in MMADHC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

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

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MMADHC.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to MMADHC.

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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