Parkinson Disease and Complex Parkinsonism
Gene: C19orf12Comment on mode of inheritance: Monfrini et al (PMID: 29295770) and Gregory et al (PMID: 31087512) have reported heterozygous pathogenic C19ORF12 variants in patients with neurodegeneration with brain iron accumulation 4 (OMIM: 614298). Therefore, the mode of inheritance for this gene should be BOTH monoallelic and biallelic, autosomal or pseudoautosomal.Created: 7 Apr 2022, 12:36 p.m. | Last Modified: 7 Apr 2022, 12:36 p.m.
Panel Version: 1.108
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration with brain iron accumulation 4; spastic paraplegia
Comment on list classification: Also green on the early onset dystonia gene panel Version 1.0, Hereditary spastic paraplegia Version 1.0, and Mitochondrial disorders Version 1.14. Information regarding the phenotype on OMIM: "Neurodegeneration with brain iron accumulation-4 (NBIA4) is an autosomal recessive neurodegenerative disorder characterized by progressive spastic paraplegia, parkinsonism unresponsive to L-DOPA treatment, and psychiatric or behavioral symptoms".Created: 28 Oct 2016, 12:30 p.m.
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.
Mode of inheritance for gene: C19orf12 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: C19orf12 were changed from Dystonia; mitochondrial membrane protein-associated neurodegeneration; Neurodegeneration with brain iron accumulation 4 to ?Spastic paraplegia 43, autosomal recessive, OMIM:615043; Neurodegeneration with brain iron accumulation 4, OMIM: 614298
Publications for gene: C19orf12 were set to
19th Dec 2016: panel revised according to expert review and further curation.
This gene has been classified as Green List (High Evidence).
Phenotypes for C19orf12 were set to Dystonia; mitochondrial membrane protein-associated neurodegeneration; Neurodegeneration with brain iron accumulation 4
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
C19orf12 was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Expert list
C19orf12 was created by ellenmcdonagh