Adult onset hereditary spastic paraplegia
Gene: C19orf12EnsemblGeneIds (GRCh38): ENSG00000131943
EnsemblGeneIds (GRCh37): ENSG00000131943
OMIM: 614297, Gene2Phenotype
C19orf12 is in 17 panels
5 reviews
Mafalda Gomes (Genomics England Curator)
The 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, 4:14 p.m. | Last Modified: 1 Feb 2023, 4:14 p.m.
Panel Version: 2.7
Sarah Leigh (Genomics England Curator)
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, 12:20 p.m. | Last Modified: 7 Apr 2022, 12:20 p.m.
Panel Version: 1.97
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Insufficient evidence yet. Only two patients reported with HSP although patients with NBIA do show spasticity. No further patients identified using Sheffield panel.Created: 8 May 2019, 4:38 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Louise Daugherty (Genomics England Curator)
Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.Created: 21 May 2019, 4:14 p.m.
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:50 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Victoria: same mutation can present with or without brain iron accumulation. I would tend to put in the list, but so far only one variant was associated with HSP. Most published mutations-Neurodegeneration with brain iron accumulation 4, spasticity can be a feature . 1 HSP related mutation published In 2 sisters, born of consanguineous Malian parents. In Sheffields HSP panelCreated: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Yorkshire and North East GLH
- Expert Review Green
- NHS GMS
- London North GLH
- Phenotypes
-
- ?Spastic paraplegia 43, autosomal recessive, OMIM:615043
- Neurodegeneration with brain iron accumulation 4, OMIM: 614298
- OMIM
- 614297
- Clinvar variants
- Variants in C19orf12
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Intellectual disability
- Optic neuropathy
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Parkinson Disease and Complex Parkinsonism
- Early onset dystonia
- Possible mitochondrial disorder - nuclear genes
- Hereditary spastic paraplegia
- Adult onset hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
History Filter Activity
Removed Tag
Mafalda Gomes (Genomics England Curator)Tag Q2_22_MOI was removed from gene: C19orf12.
Set mode of inheritance
Mafalda Gomes (Genomics England Curator)Mode of inheritance for gene C19orf12 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q2_22_MOI tag was added to gene: C19orf12.
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: C19orf12 were set to 23857908; 26539891
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: C19orf12 were set to
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to C19orf12.
Added New Source, Set mode of inheritance, Set Phenotypes, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to C19orf12. Mode of inheritance for gene C19orf12 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298 for gene: C19orf12 Rating Changed from Red List (low evidence) to Green List (high evidence)
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to C19orf12.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: C19orf12 was added gene: C19orf12 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: C19orf12 was set to