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  2. Alternating Hemiplegia and Hemiplegic Migraine
  3. CST3
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Alternating Hemiplegia and Hemiplegic Migraine

Gene: CST3

Green List (high evidence)
CST3 (cystatin C)
EnsemblGeneIds (GRCh38): ENSG00000101439
EnsemblGeneIds (GRCh37): ENSG00000101439
OMIM: 604312, Gene2Phenotype
CST3 is in 9 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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. 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: Literature
Created: 1 Apr 2024, 7:38 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
leukodystrophy MONDO:0019046, CST3-related

Publications

Mode of pathogenicity
Other

Created: 1 Apr 2024, 7:38 a.m.

Panel version: 0.56

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • leukodystrophy MONDO:0019046, CST3-related
OMIM
604312
Clinvar variants
Variants in CST3
Penetrance
None
Publications
Mode of Pathogenicity
Other
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, Set mode of pathogenicity

Bryony Thompson (Royal Melbourne Hospital)

gene: CST3 was added gene: CST3 was added to Alternating Hemiplegia and Hemiplegic Migraine. 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, CST3-related Mode of pathogenicity for gene: CST3 was set to Other Review for gene: CST3 was set to GREEN