This Panel is marked as Internal
Dystonia - childhood onset
Gene: C19orf12
C19orf12 (chromosome 19 open reading frame 12)
EnsemblGeneIds (GRCh38): ENSG00000131943
EnsemblGeneIds (GRCh37): ENSG00000131943
OMIM: 614297, Gene2Phenotype
C19orf12 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000131943
EnsemblGeneIds (GRCh37): ENSG00000131943
OMIM: 614297, Gene2Phenotype
C19orf12 is in 17 panels
0 reviews
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- neurodegeneration with brain iron accumulation-4
- mitochondrial membrane protein-associated neurodegeneration
- Dystonia
- OMIM
- 614297
- Clinvar variants
- Variants in C19orf12
- Penetrance
- None
- Panels with this gene
-
- Structural basal ganglia disorders
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- Optic neuropathy
- Mitochondrial disorders
- Parkinson Disease and Complex Parkinsonism
- Likely inborn error of metabolism
- Early onset dystonia
- Possible mitochondrial disorder - nuclear genes
- Hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- Hereditary neuropathy or pain disorder
- Adult onset hereditary spastic paraplegia
- Hereditary neuropathy
- Childhood onset hereditary spastic paraplegia
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: C19orf12 was added gene: C19orf12 was added to Dystonia - childhood onset. 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