Adult onset dystonia, chorea or related movement disorder
Gene: C19orf12Comment on phenotypes: neurodegeneration with brain iron accumulation-4;mitochondrial membrane protein-associated neurodegeneration;DystoniaCreated: 24 Mar 2021, 5:08 p.m. | Last Modified: 24 Mar 2021, 5:08 p.m.
Panel Version: 1.34
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 1:19 p.m.
Publications for gene: C19orf12 were set to
Phenotypes for gene: C19orf12 were changed from neurodegeneration with brain iron accumulation-4; mitochondrial membrane protein-associated neurodegeneration; Dystonia to ?Spastic paraplegia 43, autosomal recessive OMIM:615043; hereditary spastic paraplegia 43 MONDO:0014024; Neurodegeneration with brain iron accumulation 4 OMIM:614298; neurodegeneration with brain iron accumulation 4 MONDO:0013674
Source NHS GMS was added to C19orf12.
Source London North GLH was added to C19orf12.
gene: C19orf12 was added gene: C19orf12 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: C19orf12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: C19orf12 were set to neurodegeneration with brain iron accumulation-4; mitochondrial membrane protein-associated neurodegeneration; Dystonia