Activity

Filter

Panel

Version

Gene or Genomic Entity Name

Date from

Date to

Cancel

Date	Panel	Item	Activity
Filter activities 4 actions
07 Apr 2022	Hereditary spastic paraplegia v1.292	C19orf12	Sarah Leigh Added comment: 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.
07 Apr 2022	Hereditary spastic paraplegia v1.292	C19orf12	Sarah Leigh Mode of inheritance for gene: C19orf12 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
07 Apr 2022	Hereditary spastic paraplegia v1.291	C19orf12	Sarah Leigh Phenotypes for gene: C19orf12 were changed from to ?Spastic paraplegia 43, autosomal recessive, OMIM:615043; Neurodegeneration with brain iron accumulation 4, OMIM: 614298
07 Apr 2022	Hereditary spastic paraplegia v1.290	C19orf12	Sarah Leigh Publications for gene: C19orf12 were set to Landoure (2013)