Dystonia - childhood onset

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 10 panels

0 reviews

History Filter Activity

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Eleanor Williams: Updated to green when making t

19 Dec 2018, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: MMADHC was added gene: MMADHC was added to Dystonia - childhood onset. Sources: Expert Review Red Mode of inheritance for gene: MMADHC was set to Unknown Phenotypes for gene: MMADHC were set to Dystonia