1. Panels
  2. Dystonia - complex
  3. MMADHC
STRs in panel
Prev Next
Regions in panel
Prev Next

Dystonia - complex

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 12 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Single case reported with dystonia as a feature of the condition.
Sources: Expert list
Created: 6 Apr 2020, 2:15 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Homocystinuria, cblD type, variant 1 MIM#277410

Publications

Created: 6 Apr 2020, 2:15 a.m.

Panel version: 0.30

History Filter Activity

6 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mmadhc has been classified as Red List (Low Evidence).

6 Apr 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MMADHC was added gene: MMADHC was added to Dystonia - complex. Sources: Expert list Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMADHC were set to 15292234; 18385497 Phenotypes for gene: MMADHC were set to Homocystinuria, cblD type, variant 1 MIM#277410 Review for gene: MMADHC was set to RED