Repeat Disorders
STR: CANVASGRCh37 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
1 review
Bryony Thompson (Royal Melbourne Hospital)
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 listCreated: 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 RelevantInterruptions 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: <
- 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
- OMIM
- 102579
- Clinvar variants
- Variants in RFC1
- Penetrance
- None
- Publications
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag adult-onset tag was added to STR: CANVAS.
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: canvas has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: canvas has been classified as Green List (High Evidence).
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