Mitochondrial disorders
Gene: C19orf12EnsemblGeneIds (GRCh38): ENSG00000131943
EnsemblGeneIds (GRCh37): ENSG00000131943
OMIM: 614297, Gene2Phenotype
C19orf12 is in 17 panels
6 reviews
Sarah Leigh (Genomics England Curator)
Comment on list classification: This gene was demoted from Green to Red, based on the reviews of clinical experts.Created: 19 Jun 2019, 12:34 p.m.
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
No link to mitochondrial disease & phenotype does not seem particularly similar to a mitochondrial conditionCreated: 19 Jun 2019, 12:26 p.m.
Phenotypes
Neurodegeneration with brain iron accumulation 4, 614298; ?Spastic paraplegia 43, autosomal recessive, 615043
Carl Fratter (Oxford University Hospitals NHS Trust)
Red - not considered a primary mitochondrial disorderCreated: 11 Jun 2019, 3:59 p.m.
Phenotypes
Neurodegeneration with brain iron accumulation 4, 614298; ?Spastic paraplegia 43, autosomal recessive, 615043
Zornitza Stark (Australian Genomics)
Definitely a green gene, but what is the link to mitochondrial disease?Created: 27 Aug 2018, 9:52 a.m.
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Confirmed on OMIM.Created: 8 Feb 2016, 11:25 a.m.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Neurodegeneration with brain iron accumulation 4, 614298
- Mitochondrial Membrane Protein-Associated Neurodegeneration
- OMIM
- 614297
- Clinvar variants
- Variants in C19orf12
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Structural basal ganglia disorders
- Undiagnosed metabolic disorders
- Hereditary neuropathy
- Optic neuropathy
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Mitochondrial disorders
- Parkinson Disease and Complex Parkinsonism
- Hereditary neuropathy or pain disorder
- Early onset dystonia
- Hereditary spastic paraplegia
- Childhood onset hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset hereditary spastic paraplegia
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: c19orf12 has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for C19orf12 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene C19orf12 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)C19orf12 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)C19orf12 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services