Repeat Disorders
STR: CANVAS_ACAGGGRCh37 Position: 39350045-39350103
GRCh38 Position: 39348425-39348483
Repeated Sequence: ACAGG
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)
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
Details
- Name
- CANVAS_ACAGG
- Chromosome
- 4
- GRCh37 Coordinates
- 39350045-39350103
- GRCh38 Coordinates
- 39348425-39348483
- Repeated Sequence
- ACAGG
- Normal Number of Repeats: <
- 0
- Pathogenic Number of Repeats: = or >
- 400
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
- fasciculations
- elevated serum creatine kinase levels
- denervation
- Tags
- OMIM
- 102579
- Clinvar variants
- Variants in RFC1
- Penetrance
- None
- Publications
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Str: canvas_acagg has been classified as Amber List (Moderate Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag adult-onset tag was added to STR: CANVAS_ACAGG.
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: canvas_acagg has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)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