Parkinson Disease and Complex Parkinsonism
Gene: C19orf12

C19orf12 (chromosome 19 open reading frame 12)
EnsemblGeneIds (GRCh38): ENSG00000131943
EnsemblGeneIds (GRCh37): ENSG00000131943
OMIM: 614297, Gene2Phenotype
C19orf12 is in 17 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment 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

Created: 7 Apr 2022, 12:36 p.m.
Last Modified: 7 Apr 2022, 12:36 p.m.
Panel version: 1.108

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodegeneration with brain iron accumulation 4; spastic paraplegia

Created: 29 Nov 2016, 2:55 p.m.

Panel version: 0.137

Ellen McDonagh (Genomics England Curator)

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.

Created: 10 Jun 2016, 11:02 a.m.

Panel version: Imported from "Early onset and familial Parkinson's Disease" panel version 0.23

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list

Phenotypes

?Spastic paraplegia 43, autosomal recessive, OMIM:615043
Neurodegeneration with brain iron accumulation 4, OMIM: 614298

OMIM

614297

Clinvar variants

Variants in C19orf12

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

7 Apr 2022, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: C19orf12 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

7 Apr 2022, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

7 Apr 2022, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: C19orf12 were set to

19 Dec 2016, Gel status: 4