Mitochondrial disorders
Gene: C19orf12Comment 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.
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
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
Definitely a green gene, but what is the link to mitochondrial disease?Created: 27 Aug 2018, 9:52 a.m.
Comment on mode of inheritance: Confirmed on OMIM.Created: 8 Feb 2016, 11:25 a.m.
Gene: c19orf12 has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for C19orf12 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene C19orf12 was changed to BIALLELIC, autosomal or pseudoautosomal
C19orf12 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
C19orf12 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services