Ataxia - adult onset

STR: CANVAS_ACAGG

Amber List (moderate evidence)

Chromosome: 4
GRCh37 Position: 39350045-39350103
GRCh38 Position: 39348425-39348483
Repeated Sequence: ACAGG
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)

I don't know

Comment on list classification: Used the pathogenic cut-off of 400 repeats from original CANVAS repeat
Created: 10 Dec 2020, 12:36 a.m. | Last Modified: 10 Dec 2020, 12:36 a.m.
Panel Version: 0.129
A novel RFC1 repeat expansion motif, (ACAGG)exp, identified in three affected individuals from 2 families in an Asian-Pacific cohort for CANVAS. Southern blot was used to identify the repeat was ~1000kb in one of the cases, equivalent to ~1000 repeats.
Sources: Literature
Created: 10 Dec 2020, 12:35 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: < or =
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
OMIM
102579
Clinvar variants
Variants in RFC1
Penetrance
None
Publications

History Filter Activity

10 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: canvas_acagg has been classified as Amber List (Moderate Evidence).

10 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: canvas_acagg has been classified as Amber List (Moderate Evidence).

10 Dec 2020, Gel status: 1

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 Ataxia - adult onset. Sources: Literature Mode of inheritance for STR: CANVAS_ACAGG was set to BIALLELIC, autosomal or pseudoautosomal Publications for STR: CANVAS_ACAGG were set to 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