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Mendeliome

Gene: RFC1

Amber List (moderate 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, 6:29 a.m. | Last Modified: 4 Aug 2022, 6:29 a.m.
Panel Version: 1.205

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

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

Bryony Thompson (Royal Melbourne Hospital)

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

Sue White (Victorian Clinical Genetics Services)

Green List (high evidence)

adult onset ataxia due to biallelic intronic STR expansion
Sources: Literature
Created: 10 Jan 2020, 4:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Literature
Phenotypes
  • Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575
Tags
STR
OMIM
102579
Clinvar variants
Variants in RFC1
Penetrance
unknown
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

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

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

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

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).

10 Dec 2020, Gel status: 0

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: rfc1 has been removed from the panel.

16 Jun 2020, Gel status: 3

Added Tag

Bryony Thompson (Royal Melbourne Hospital)

Tag STR tag was added to gene: RFC1.

10 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Sue White (Victorian Clinical Genetics Services)

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

10 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Sue White (Victorian Clinical Genetics Services)

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

10 Jan 2020, Gel status: 1

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

Sue White (Victorian Clinical Genetics Services)

gene: RFC1 was added gene: RFC1 was added to Mendeliome_VCGS. Sources: Literature 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 OMIM 614575 Penetrance for gene: RFC1 were set to unknown Mode of pathogenicity for gene: RFC1 was set to Other Review for gene: RFC1 was set to GREEN