This Panel is marked as Internal
Early onset and familial Parkinson's Disease
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
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Is on the Complex Parkinson's Disease/Dystonia NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 11:02 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Dystonia
- mitochondrial membrane protein-associated neurodegeneration
- OMIM
- 614297
- Clinvar variants
- Variants in C19orf12
- Penetrance
- Complete
- Panels with this gene
-
- Structural basal ganglia disorders
- Adult onset neurodegenerative disorder
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Optic neuropathy
- Parkinson Disease and Complex Parkinsonism
- Childhood onset hereditary spastic paraplegia
- Mitochondrial disorders
- Early onset dystonia
- Hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- Adult onset hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- Possible mitochondrial disorder - nuclear genes
- Likely inborn error of metabolism
- Hereditary neuropathy
History Filter Activity
10 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
10 Jun 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)C19orf12 was created by ellenmcdonagh
10 Jun 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)C19orf12 was added to Early onset and familial Parkinson's Diseasepanel. Sources: Expert list