Hereditary Neuropathy - complex
Gene: RFC1EnsemblGeneIds (GRCh38): ENSG00000035928
EnsemblGeneIds (GRCh37): ENSG00000035928
OMIM: 102579, Gene2Phenotype
RFC1 is in 4 panels
4 reviews
Ain Roesley (Victorian Clinical Genetics Services)
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, 6:27 a.m. | Last Modified: 4 Aug 2022, 6:27 a.m.
Panel Version: 0.128
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
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: STR is the only reported cause of condition. It is present under the STRs in this panel.Created: 18 Nov 2020, 12:51 a.m. | Last Modified: 18 Nov 2020, 12:51 a.m.
Panel Version: 0.90
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
23 affected individuals from 11 families reported with biallelic AAGGG repeat expansion in intron 2. Expansion carrier frequency of 0.7% in Europeans.
Sources: LiteratureCreated: 2 Apr 2020, 9:30 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome OMIM 614575
Publications
Sue White (Victorian Clinical Genetics Services)
adult onset; biallelic intronic STR expansion (AAAAG)
Sources: LiteratureCreated: 10 Jan 2020, 3:47 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ataxia; sensory neuropathy; 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 Green
- Literature
- Literature
- Phenotypes
-
- Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome OMIM 614575
- Tags
- OMIM
- 102579
- Clinvar variants
- Variants in RFC1
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: rfc1 has been classified as Green List (High Evidence).
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: RFC1 were set to 30926972
Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of pathogenicity for gene: RFC1 was changed from None to Other
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rfc1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: rfc1 has been removed from the panel.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rfc1 has been classified as Green List (High Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag STR tag was added to gene: RFC1.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rfc1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RFC1 was added gene: RFC1 was added to Hereditary Neuropathy - complex. 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 Review for gene: RFC1 was set to GREEN