Ataxia - adult onset
STR: CANVAS
PMID: 37450567
- WGS sequencing of large cohort identified three novel repeat motifs (AGGGC n = 6 patients, AAGGC n = 2 patients, AGAGG n=1 patient) and demonstrated a pathogenic role for another motif (AAAGG n=5 patients) in homozygous or compound heterozygous state with the common pathogenic AAGGG expansion in patients with CANVAS.Created: 3 Aug 2023, 3:10 a.m. | Last Modified: 3 Aug 2023, 3:10 a.m.
Panel Version: 1.4
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (MIM:614575)
Publications
Simple tandem repeat (AAAAG)11 replaced with (AAGGG)n in intron 2 of RFC1. Loss of function is not the mechanism of disease. Maori population-specific CANVAS configuration (AAAGG)10-25(AAGGG)exp. (AAAGG)n repeat alone is not pathogenic.
Sources: Expert listCreated: 28 Aug 2020, 12:29 a.m. | Last Modified: 10 Dec 2020, 12:17 a.m.
Panel Version: 0.127
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575
Publications
Clinically RelevantInterruptions in the repeated sequence are reported as part of standard diagnostic practise
Str: canvas has been classified as Green List (High Evidence).
STR: CANVAS was added STR: CANVAS was added to Ataxia - adult onset. Sources: Expert list STR tags were added to STR: CANVAS. Mode of inheritance for STR: CANVAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for STR: CANVAS were set to 30926972 Phenotypes for STR: CANVAS were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575 Review for STR: CANVAS was set to GREEN STR: CANVAS was marked as clinically relevant