Adult onset hereditary spastic paraplegia
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, 4:14 p.m. | Last Modified: 1 Feb 2023, 4:14 p.m.
Panel Version: 2.7
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, 12:20 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
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
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.
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
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 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 23857908; 26539891
Publications for gene: C19orf12 were set to
Source Yorkshire and North East GLH was added to C19orf12.
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)
Source NHS GMS was added to C19orf12.
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