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Ataxia - adult onset v1.24 RFC1_CANVAS_ANNGN Bryony Thompson Repeated Sequence for RFC1_CANVAS_ANNGN was changed from AAGGG to ANNGN.
Ataxia - adult onset v1.21 RFC1_CANVAS_ANNGN Bryony Thompson CANVAS was changed to RFC1_CANVAS_ANNGN
Ataxia - adult onset v1.18 RFC1 Bryony Thompson Publications for gene: RFC1 were set to 30926972; 35883251
Ataxia - adult onset v1.17 RFC1 Bryony Thompson Classified gene: RFC1 as Green List (high evidence)
Ataxia - adult onset v1.17 RFC1 Bryony Thompson Added comment: Comment on list classification: At least 9 families reported with a LoF variant compound het with an expanded allele
Ataxia - adult onset v1.17 RFC1 Bryony Thompson Gene: rfc1 has been classified as Green List (High Evidence).
Ataxia - adult onset v1.4 RFC1 Dean Phelan Deleted their review
Ataxia - adult onset v1.4 RFC1 Dean Phelan reviewed gene: RFC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37450567; Phenotypes: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (MIM:614575); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - adult onset v0.169 RFC1 Ain Roesley Publications for gene: RFC1 were set to 30926972; 35883251
Ataxia - adult onset v0.168 RFC1 Ain Roesley Marked gene: RFC1 as ready
Ataxia - adult onset v0.168 RFC1 Ain Roesley Gene: rfc1 has been classified as Amber List (Moderate Evidence).
Ataxia - adult onset v0.168 RFC1 Ain Roesley 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
Ataxia - adult onset v0.168 RFC1 Ain Roesley Publications for gene: RFC1 were set to 30926972
Ataxia - adult onset v0.167 RFC1 Ain Roesley Classified gene: RFC1 as Amber List (moderate evidence)
Ataxia - adult onset v0.167 RFC1 Ain Roesley Gene: rfc1 has been classified as Amber List (Moderate Evidence).
Ataxia - adult onset v0.166 RFC1 Ain Roesley reviewed gene: RFC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 35883251; Phenotypes: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Ataxia - adult onset v0.128 CANVAS_ACAGG Bryony Thompson 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
Added comment: 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
Ataxia - adult onset v0.127 CANVAS Bryony Thompson changed review comment from: Simple tandem repeat (AAAAG)11 replaced with (AAGGG)n in intron 2 of RFC1. Loss of function is not the mechanism of disease.
Sources: Expert list; to: Simple tandem repeat (AAAAG)11 replaced with (AAGGG)n in intron 2 of RFC1. Loss of function is not the mechanism of disease. Maori population-specific CANVAS configuration (AAAGG)10-25(AAGGG)exp. (AAAGG)n repeat alone is not pathogenic.
Sources: Expert list
Ataxia - adult onset v0.127 RFC1 Bryony Thompson Classified gene: RFC1 as No list
Ataxia - adult onset v0.127 RFC1 Bryony Thompson Gene: rfc1 has been removed from the panel.
Ataxia - adult onset v0.98 CANVAS Bryony Thompson STR: CANVAS was added
STR: CANVAS was added to Ataxia - adult onset. Sources: Expert list
STR tags were added to STR: CANVAS.
Mode of inheritance for STR: CANVAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: CANVAS were set to 30926972
Phenotypes for STR: CANVAS were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575
Review for STR: CANVAS was set to GREEN
STR: CANVAS was marked as clinically relevant
Added comment: Simple tandem repeat (AAAAG)11 replaced with (AAGGG)n in intron 2 of RFC1. Loss of function is not the mechanism of disease.
Sources: Expert list
Ataxia - adult onset v0.26 RFC1 Bryony Thompson Classified gene: RFC1 as Green List (high evidence)
Ataxia - adult onset v0.26 RFC1 Bryony Thompson Gene: rfc1 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.25 RFC1 Bryony Thompson Tag STR tag was added to gene: RFC1.
Ataxia - adult onset v0.25 RFC1 Bryony Thompson Classified gene: RFC1 as Red List (low evidence)
Ataxia - adult onset v0.25 RFC1 Bryony Thompson Added comment: Comment on list classification: CANVAS is associated with expansion of an intronic pentanucleotide repeat. Not detectable with WES testing.
Ataxia - adult onset v0.25 RFC1 Bryony Thompson Gene: rfc1 has been classified as Red List (Low Evidence).
Ataxia - adult onset v0.24 RFC1 Bryony Thompson Deleted their review
Ataxia - adult onset v0.10 RFC1 Bryony Thompson 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
Added comment: CANVAS is associated with expansion of an intronic pentanucleotide repeat. Not detectable with WES testing.
Sources: Expert list