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Ataxia - adult onset

STR: CANVAS

Green List (high evidence)
Chromosome: 4
GRCh37 Position: 39350045-39350103
GRCh38 Position: 39348425-39348483
Repeated Sequence: AAGGG
Normal Number of Repeats: < 0
Pathogenic Number of Repeats: = or > 400

RFC1 (replication factor C subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000035928
EnsemblGeneIds (GRCh37): ENSG00000035928
OMIM: 102579, Gene2Phenotype
RFC1 is in 0 panels

2 reviews

Dean Phelan (Victorian Clinical Genetics Services)

Green List (high evidence)

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

Created: 3 Aug 2023, 3:10 a.m.
Last Modified: 3 Aug 2023, 3:10 a.m.
Panel version: 1.4

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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 list
Created: 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 Relevant

Interruptions in the repeated sequence are reported as part of standard diagnostic practise

Created: 28 Aug 2020, 12:29 a.m.
Last Modified: 10 Dec 2020, 12:17 a.m.
Panel version: 0.127

Details

Name
CANVAS
Chromosome
4
GRCh37 Coordinates
39350045-39350103
GRCh38 Coordinates
39348425-39348483
Repeated Sequence
AAGGG
Normal Number of Repeats: <
0
Pathogenic Number of Repeats: = or >
400
Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575
Tags
STR
OMIM
102579
Clinvar variants
Variants in RFC1
Penetrance
None
Publications

History Filter Activity

28 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: canvas has been classified as Green List (High Evidence).

28 Aug 2020, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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