PanelApp (staging)

Activity

Filter

Cancel
Date Panel Item Activity
49 actions
Episodic Ataxia v1.1 Zornitza Stark HPO terms changed from to Ataxia, HP:0001251
List of related panels changed from to Ataxia; HP:0001251
Episodic Ataxia v1.0 Bryony Thompson promoted panel to version 1.0
Episodic Ataxia v0.23 BCKDHB Zornitza Stark Tag treatable tag was added to gene: BCKDHB.
Episodic Ataxia v0.22 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Episodic Ataxia v0.21 BCKDHB Zornitza Stark Marked gene: BCKDHB as ready
Episodic Ataxia v0.21 BCKDHB Zornitza Stark Gene: bckdhb has been classified as Green List (High Evidence).
Episodic Ataxia v0.21 BCKDHB Zornitza Stark Classified gene: BCKDHB as Green List (high evidence)
Episodic Ataxia v0.21 BCKDHB Zornitza Stark Gene: bckdhb has been classified as Green List (High Evidence).
Episodic Ataxia v0.20 CACNB4 Zornitza Stark Publications for gene: CACNB4 were set to
Episodic Ataxia v0.19 UBR4 Zornitza Stark Marked gene: UBR4 as ready
Episodic Ataxia v0.19 UBR4 Zornitza Stark Gene: ubr4 has been classified as Amber List (Moderate Evidence).
Episodic Ataxia v0.19 UBR4 Zornitza Stark Publications for gene: UBR4 were set to
Episodic Ataxia v0.18 KCNA1 Zornitza Stark Marked gene: KCNA1 as ready
Episodic Ataxia v0.18 KCNA1 Zornitza Stark Gene: kcna1 has been classified as Green List (High Evidence).
Episodic Ataxia v0.18 KCNA1 Zornitza Stark Publications for gene: KCNA1 were set to
Episodic Ataxia v0.17 KCNA1 Zornitza Stark Mode of pathogenicity for gene: KCNA1 was changed from None to Other
Episodic Ataxia v0.16 CACNA1A Zornitza Stark Marked gene: CACNA1A as ready
Episodic Ataxia v0.16 CACNA1A Zornitza Stark Gene: cacna1a has been classified as Green List (High Evidence).
Episodic Ataxia v0.16 CACNA1A Zornitza Stark Tag STR tag was added to gene: CACNA1A.
Episodic Ataxia v0.16 BCKDHB Eunice Chan gene: BCKDHB was added
gene: BCKDHB was added to Episodic Ataxia. Sources: Expert list
Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCKDHB were set to PMID 32151765
Phenotypes for gene: BCKDHB were set to Episodic ataxia during metabolic crises; paroxysmal nonkinesigenic dyskinesia
Added comment: Intermediate/intermittent maple syrup urine disease
Sources: Expert list
Episodic Ataxia v0.15 Bryony Thompson Panel status changed from internal to public
Episodic Ataxia v0.13 UBR4 Bryony Thompson Classified gene: UBR4 as Amber List (moderate evidence)
Episodic Ataxia v0.13 UBR4 Bryony Thompson Gene: ubr4 has been classified as Amber List (Moderate Evidence).
Episodic Ataxia v0.12 SLC1A3 Bryony Thompson Marked gene: SLC1A3 as ready
Episodic Ataxia v0.12 SLC1A3 Bryony Thompson Gene: slc1a3 has been classified as Green List (High Evidence).
Episodic Ataxia v0.12 SLC1A3 Bryony Thompson Classified gene: SLC1A3 as Green List (high evidence)
Episodic Ataxia v0.12 SLC1A3 Bryony Thompson Gene: slc1a3 has been classified as Green List (High Evidence).
Episodic Ataxia v0.11 SLC1A3 Bryony Thompson Publications for gene: SLC1A3 were set to
Episodic Ataxia v0.10 SLC1A3 Bryony Thompson reviewed gene: SLC1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116111, 23107647, 19139306, 29741614, 25497598, 29208948, 29062094; Phenotypes: Episodic ataxia, type 6 MIM#612656; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Episodic Ataxia v0.10 CACNB4 Bryony Thompson Marked gene: CACNB4 as ready
Episodic Ataxia v0.10 CACNB4 Bryony Thompson Gene: cacnb4 has been classified as Red List (Low Evidence).
Episodic Ataxia v0.10 CACNB4 Bryony Thompson reviewed gene: CACNB4: Rating: RED; Mode of pathogenicity: None; Publications: 10762541, 9039265; Phenotypes: Episodic ataxia, type 5 MIM#613855; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Episodic Ataxia v0.10 FGF14 Bryony Thompson Marked gene: FGF14 as ready
Episodic Ataxia v0.10 FGF14 Bryony Thompson Gene: fgf14 has been classified as Green List (High Evidence).
Episodic Ataxia v0.10 FGF14 Bryony Thompson Classified gene: FGF14 as Green List (high evidence)
Episodic Ataxia v0.10 FGF14 Bryony Thompson Gene: fgf14 has been classified as Green List (High Evidence).
Episodic Ataxia v0.9 FGF14 Bryony Thompson reviewed gene: FGF14: Rating: GREEN; Mode of pathogenicity: None; Publications: 32162847; Phenotypes: Episodic ataxia, Paroxysmal dyskinesia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Episodic Ataxia v0.9 UBR4 Bryony Thompson gene: UBR4 was added
gene: UBR4 was added to Episodic Ataxia. Sources: Literature
Mode of inheritance for gene: UBR4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: UBR4 were set to Episodic ataxia type 8
Episodic Ataxia v0.8 SLC1A3 Bryony Thompson gene: SLC1A3 was added
gene: SLC1A3 was added to Episodic Ataxia. Sources: Expert list
Mode of inheritance for gene: SLC1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC1A3 were set to Episodic ataxia, type 6 MIM#612656
Episodic Ataxia v0.7 FGF14 Bryony Thompson gene: FGF14 was added
gene: FGF14 was added to Episodic Ataxia. Sources: Literature
Mode of inheritance for gene: FGF14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGF14 were set to 32162847
Phenotypes for gene: FGF14 were set to Episodic Ataxia type 9
Episodic Ataxia v0.6 CACNB4 Bryony Thompson gene: CACNB4 was added
gene: CACNB4 was added to Episodic Ataxia. Sources: Expert list
Mode of inheritance for gene: CACNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNB4 were set to Episodic ataxia, type 5 MIM#613855
Episodic Ataxia v0.5 CACNA1A Bryony Thompson Classified gene: CACNA1A as Green List (high evidence)
Episodic Ataxia v0.5 CACNA1A Bryony Thompson Gene: cacna1a has been classified as Green List (High Evidence).
Episodic Ataxia v0.4 CACNA1A Bryony Thompson gene: CACNA1A was added
gene: CACNA1A was added to Episodic Ataxia. Sources: Expert list
Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNA1A were set to Episodic ataxia, type 2 MIM#108500
Episodic Ataxia v0.3 KCNA1 Bryony Thompson Phenotypes for gene: KCNA1 were changed from Episodic ataxia/myokymia syndrome MIM#160120 to Episodic ataxia/myokymia syndrome MIM#160120; EA1
Episodic Ataxia v0.2 KCNA1 Bryony Thompson Classified gene: KCNA1 as Green List (high evidence)
Episodic Ataxia v0.2 KCNA1 Bryony Thompson Gene: kcna1 has been classified as Green List (High Evidence).
Episodic Ataxia v0.1 KCNA1 Bryony Thompson gene: KCNA1 was added
gene: KCNA1 was added to Episodic Ataxia. Sources: Expert list
Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNA1 were set to Episodic ataxia/myokymia syndrome MIM#160120
Episodic Ataxia v0.0 Bryony Thompson Added Panel Episodic Ataxia
Set panel types to: Royal Melbourne Hospital; Rare Disease