Likely inborn error of metabolism - targeted testing not possible
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: 1 Feb 2023, 10:24 a.m. | Last Modified: 1 Feb 2023, 10:24 a.m.
Panel Version: 3.6
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, 12:41 p.m. | Last Modified: 7 Apr 2022, 12:41 p.m.
Panel Version: 2.243
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.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications
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.
Tag Q2_22_MOI was removed from gene: 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 Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism); Neurodegeneration with brain iron accumulation 4, 614298; Mitochondrial Membrane Protein-Associated Neurodegeneration to ?Spastic paraplegia 43, autosomal recessive, OMIM:615043; Neurodegeneration with brain iron accumulation 4, OMIM: 614298
Publications for gene: C19orf12 were set to 27604308
Source: Expert Review Red was removed from gene: C19orf12
Source NHS GMS was added to C19orf12. Source London North GLH was added to C19orf12.
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Added phenotypes Mitochondrial Membrane Protein-Associated Neurodegeneration; Neurodegeneration with brain iron accumulation 4, 614298 for gene: C19orf12
gene: C19orf12 was added gene: C19orf12 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C19orf12 were set to 27604308 Phenotypes for gene: C19orf12 were set to Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism); Neurodegeneration with brain iron accumulation 4, 614298; Mitochondrial Membrane Protein-Associated Neurodegeneration