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Ataxia - adult onset

Gene: RFC1

Green List (high evidence)
RFC1 (replication factor C subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000035928
EnsemblGeneIds (GRCh37): ENSG00000035928
OMIM: 102579, Gene2Phenotype
RFC1 is in 4 panels

4 reviews

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

2 unrelated families Chet PTC + STR expansion.

Reduction in RFC1 mRNA expression demonstrated in both probands, compared to samples hom for the expansion.
Created: 4 Aug 2022, 6:28 a.m. | Last Modified: 4 Aug 2022, 6:28 a.m.
Panel Version: 0.166

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 4 Aug 2022, 6:28 a.m.
Last Modified: 4 Aug 2022, 6:28 a.m.
Panel version: 0.166

Teresa Zhao (Victorian Clinical Genetics Services)

Green List (high evidence)

A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families
Created: 7 Dec 2020, 4:19 a.m. | Last Modified: 7 Dec 2020, 4:19 a.m.
Panel Version: 0.5552

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS)

Publications

Created: 7 Dec 2020, 4:19 a.m.
Last Modified: 7 Dec 2020, 4:19 a.m.
Panel version: Imported from Mendeliome panel version 0.5552

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: At least 9 families reported with a LoF variant compound het with an expanded allele
Created: 12 Nov 2024, 4:31 a.m. | Last Modified: 12 Nov 2024, 4:31 a.m.
Panel Version: 1.17
Comment on list classification: CANVAS is associated with expansion of an intronic pentanucleotide repeat. Not detectable with WES testing.
Created: 17 Apr 2020, 3:33 a.m. | Last Modified: 17 Apr 2020, 3:33 a.m.
Panel Version: 0.25
Created: 17 Apr 2020, 3:33 a.m.
Last Modified: 17 Apr 2020, 3:33 a.m.
Panel version: 0.25

Sue White (Victorian Clinical Genetics Services)

Green List (high evidence)

Biallelic intronic STR (AAGGG) expansion
Sources: Literature
Created: 10 Jan 2020, 3:42 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome OMIM 614575

Publications

Created: 10 Jan 2020, 3:42 a.m.

Panel version: Imported from Ataxia panel version 0.101

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Literature
Phenotypes
  • Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575
Tags
STR
OMIM
102579
Clinvar variants
Variants in RFC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Nov 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: RFC1 were set to 30926972; 35883251

12 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: rfc1 has been classified as Green List (High Evidence).

4 Aug 2022, Gel status: 2

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: RFC1 were set to 30926972; 35883251

4 Aug 2022, Gel status: 2

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: rfc1 has been classified as Amber List (Moderate Evidence).

4 Aug 2022, Gel status: 2

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: RFC1 were changed from Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, 614575; CANVAS to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575

4 Aug 2022, Gel status: 2

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: RFC1 were set to 30926972

4 Aug 2022, Gel status: 2

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: rfc1 has been classified as Amber List (Moderate Evidence).

28 Sep 2020, Gel status: 0

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: rfc1 has been removed from the panel.

17 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: rfc1 has been classified as Green List (High Evidence).

17 Apr 2020, Gel status: 1

Added Tag

Bryony Thompson (Royal Melbourne Hospital)

Tag STR tag was added to gene: RFC1.

17 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: rfc1 has been classified as Red List (Low Evidence).

16 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: RFC1 was added gene: RFC1 was added to Ataxia - adult onset_RMH. Sources: Expert list Mode of inheritance for gene: RFC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFC1 were set to 30926972 Phenotypes for gene: RFC1 were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, 614575; CANVAS Review for gene: RFC1 was set to RED