Leukodystrophy - adult onset
Gene: CST3
CST3 (cystatin C)
EnsemblGeneIds (GRCh38): ENSG00000101439
EnsemblGeneIds (GRCh37): ENSG00000101439
OMIM: 604312, Gene2Phenotype
CST3 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000101439
EnsemblGeneIds (GRCh37): ENSG00000101439
OMIM: 604312, Gene2Phenotype
CST3 is in 9 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
16 patients from 8 leukodystrophy families carrying one of four different stop-gain or frameshift dominant variants in the C-terminal (in the NMD-exclusion zone) of the CST3 gene. The suggested mechanism of disease by rendering the protein more prone to aggregation. The clinical phenotype consists of recurrent episodes of hemiplegic migraine associated with transient unilateral focal deficits and slowly progressing motor symptoms and cognitive decline in mid-old adult ages. Clinical & radiological features differ from Cerebral Amyloid Angiopathy.
Sources: LiteratureCreated: 1 Apr 2024, 7:25 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
leukodystrophy MONDO:0019046
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- leukodystrophy MONDO:0019046
- OMIM
- 604312
- Clinvar variants
- Variants in CST3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
1 Apr 2024, Gel status: 3
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: cst3 has been classified as Green List (High Evidence).
1 Apr 2024, Gel status: 3
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: cst3 has been classified as Green List (High Evidence).
1 Apr 2024, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: CST3 was added gene: CST3 was added to Leukodystrophy - adult onset. Sources: Literature Mode of inheritance for gene: CST3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CST3 were set to 38489591 Phenotypes for gene: CST3 were set to leukodystrophy MONDO:0019046 Review for gene: CST3 was set to GREEN