Activity

Filter

Cancel
Date Panel Item Activity
13 actions
Ataxia - adult onset v0.122 BEAN1 Bryony Thompson Classified gene: BEAN1 as No list
Ataxia - adult onset v0.122 BEAN1 Bryony Thompson Gene: bean1 has been removed from the panel.
Ataxia - adult onset v0.29 BEAN1 Bryony Thompson Marked gene: BEAN1 as ready
Ataxia - adult onset v0.29 BEAN1 Bryony Thompson Gene: bean1 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.29 BEAN1 Bryony Thompson Classified gene: BEAN1 as Green List (high evidence)
Ataxia - adult onset v0.29 BEAN1 Bryony Thompson Gene: bean1 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.22 BEAN1 Bryony Thompson Classified gene: BEAN1 as Red List (low evidence)
Ataxia - adult onset v0.22 BEAN1 Bryony Thompson Added comment: Comment on list classification: Repeat is the only reported cause of condition, which cannot be detected with current NGS technology.
Ataxia - adult onset v0.22 BEAN1 Bryony Thompson Gene: bean1 has been classified as Red List (Low Evidence).
Ataxia - adult onset v0.21 BEAN1 Bryony Thompson Tag STR tag was added to gene: BEAN1.
Ataxia - adult onset v0.21 BEAN1 Bryony Thompson reviewed gene: BEAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19878914; Phenotypes: Spinocerebellar ataxia 31 MIM#117210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - adult onset v0.21 BEAN1 Bryony Thompson Deleted their review
Ataxia - adult onset v0.5 BEAN1 Bryony Thompson gene: BEAN1 was added
gene: BEAN1 was added to Ataxia - adult onset_RMH. Sources: Expert list
Mode of inheritance for gene: BEAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BEAN1 were set to Spinocerebellar ataxia 31, 117210; autosomal dominant cerebellar ataxia type III
Review for gene: BEAN1 was set to RED
Added comment: Pentanucleotide repeat causes disease, which is not detectable with WES testing.
Sources: Expert list