Repeat Disorders

STR: CANVAS

Green List (high evidence)

Chromosome: 4
GRCh37 Position: 39350045-39350103
GRCh38 Position: 39348425-39348483
Repeated Sequence: AAGGG
Normal Number of Repeats: < or = 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 4 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

NM_001204747​.1:c.132+2923_2927AAAAG[X]
Simple tandem repeat (AAAAG)n 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. Mechanism of disease is unknown.
Normal: AAAAG 11 repeats (allele frequency = 0.75); AAAAG 12-200 (allele frequency = 0.13); AAAGG 40-1000 (allele frequency = 0.08)
Pathogenic: AAGGG repeat expansion, most frequently ranging from 400 to more than 2000 repeats (allele frequency = 0.01-0.04)
Sources: Expert list
Created: 29 Aug 2021, 6:30 a.m.

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

Details

Name
CANVAS
Chromosome
4
GRCh37 Coordinates
39350045-39350103
GRCh38 Coordinates
39348425-39348483
Repeated Sequence
AAGGG
Normal Number of Repeats: < or =
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
adult-onset
OMIM
102579
Clinvar variants
Variants in RFC1
Penetrance
None
Publications

History Filter Activity

1 Sep 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag adult-onset tag was added to STR: CANVAS.

29 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

29 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

29 Aug 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

STR: CANVAS was added STR: CANVAS was added to Repeat Disorders. Sources: Expert list Mode of inheritance for STR: CANVAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for STR: CANVAS were set to 30926972; 32851396; 33237689; 31230722 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