Repeat Disorders
STR: CANVAS_ACAGG
Comment on list classification: Used the pathogenic cut-off of 400 repeats from original CANVAS repeatCreated: 29 Aug 2021, 6:38 a.m. | Last Modified: 29 Aug 2021, 6:38 a.m.
Panel Version: 0.103
A novel RFC1 repeat expansion motif, (ACAGG)exp, identified in three affected individuals from 2 families in an Asian-Pacific cohort and one Japanese individual for CANVAS. Southern blot was used to identify the repeat was ~1000kb in one of the cases, equivalent to ~1000 repeats.
Sources: LiteratureCreated: 29 Aug 2021, 6:37 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome; fasciculations; elevated serum creatine kinase levels; denervation
Publications
Str: canvas_acagg has been classified as Amber List (Moderate Evidence).
Tag adult-onset tag was added to STR: CANVAS_ACAGG.
Str: canvas_acagg has been classified as Amber List (Moderate Evidence).
STR: CANVAS_ACAGG was added STR: CANVAS_ACAGG was added to Repeat Disorders. Sources: Literature Mode of inheritance for STR: CANVAS_ACAGG was set to BIALLELIC, autosomal or pseudoautosomal Publications for STR: CANVAS_ACAGG were set to 33237689; 32694621; 33103729 Phenotypes for STR: CANVAS_ACAGG were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome; fasciculations; elevated serum creatine kinase levels; denervation Review for STR: CANVAS_ACAGG was set to AMBER