Hereditary spastic paraplegia
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, 12:26 p.m. | Last Modified: 7 Apr 2022, 12:26 p.m.
Panel Version: 1.292
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration with brain iron accumulation 4, spasticity can be a feature
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 to ?Spastic paraplegia 43, autosomal recessive, OMIM:615043; Neurodegeneration with brain iron accumulation 4, OMIM: 614298
Publications for gene: C19orf12 were set to Landoure (2013)
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene C19orf12 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene C19orf12 was changed to BIALLELIC, autosomal or pseudoautosomal
C19orf12 was added to Hereditary spastic paraplegiapanel. Sources: Expert list