Stroke
Gene: CST3
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.Created: 1 Apr 2024, 7:46 a.m. | Last Modified: 1 Apr 2024, 7:46 a.m.
Panel Version: 1.1625
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
leukodystrophy MONDO:0019046, CST3-related
Publications
Mode of pathogenicity
Other
Cerebral amyloid angiopathy (CAA), defined by the deposition of congophilic material in the vessels of the cortex and leptomeninges, is a major cause of intracerebral hemorrhage in the elderly.
Single variant reported in multiple Icelandic families, founder effect.Created: 10 Mar 2021, 10:01 a.m. | Last Modified: 10 Mar 2021, 10:01 a.m.
Panel Version: 0.76
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cerebral amyloid angiopathy, MIM# 105150
Publications
Tag founder tag was added to gene: CST3.
Gene: cst3 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: CST3 were changed from Hereditary cerebral amyloid angiopathy, Icelandic type, MIM#105150 to Cerebral amyloid angiopathy, MIM# 105150
Phenotypes for gene: CST3 were changed from Hereditary cerebral amyloid angiopathy, Icelandic type to Hereditary cerebral amyloid angiopathy, Icelandic type, MIM#105150
Publications for gene: CST3 were set to
Gene: cst3 has been classified as Amber List (Moderate Evidence).
gene: CST3 was added gene: CST3 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CST3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CST3 were set to Hereditary cerebral amyloid angiopathy, Icelandic type