Optic neuropathy
Gene: C19orf12The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 1:02 p.m. | Last Modified: 30 Jan 2023, 1:02 p.m.
Panel Version: 3.7
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, 12:34 p.m. | Last Modified: 7 Apr 2022, 12:34 p.m.
Panel Version: 2.62
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications
Comment on list classification: Promoted from amber to green. C19orf12 is associated with a phenotype in OMIM but not in Gene2Phenotype. There are >3 unrelated cases of different variants in OMIM. Based on this and the expert review, it was decided that there is enough evidence to promote this gene to a green rating.Created: 20 Mar 2019, 1:28 p.m.
Tag Q2_22_MOI was removed from gene: C19orf12.
Source NHS GMS was added to C19orf12. Mode of inheritance for gene C19orf12 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tag Q2_22_MOI tag was added to gene: C19orf12.
Phenotypes for gene: C19orf12 were changed from SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE, 615043; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, 614298 to ?Spastic paraplegia 43, autosomal recessive, OMIM:615043; Neurodegeneration with brain iron accumulation 4, OMIM: 614298
Publications for gene: C19orf12 were set to 27772766; 26187298; 24209434; 22584950
Gene: c19orf12 has been classified as Green List (High Evidence).
Phenotypes for gene: C19orf12 were changed from to SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE, 615043; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, 614298
Publications for gene: C19orf12 were set to
Mode of inheritance for gene: C19orf12 was changed from to BIALLELIC, autosomal or pseudoautosomal
gene: C19orf12 was added gene: C19orf12 was added to Optic neuropathy. Sources: London North GLH,Expert Review Amber Mode of inheritance for gene: C19orf12 was set to