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Achromatopsia v1.5 Zornitza Stark List of related panels changed from to Achromatopsia; HP:0011516
Achromatopsia v1.4 Zornitza Stark HPO terms changed from to Achromatopsia, HP:0011516
Achromatopsia v1.3 Zornitza Stark removed gene:STN1 from the panel
Achromatopsia v1.2 STN1 Sue White Classified gene: STN1 as Green List (high evidence)
Achromatopsia v1.2 STN1 Sue White Gene: stn1 has been classified as Green List (High Evidence).
Achromatopsia v1.1 STN1 Sue White Marked gene: STN1 as ready
Achromatopsia v1.1 STN1 Sue White Gene: stn1 has been classified as Red List (Low Evidence).
Achromatopsia v1.1 STN1 Sue White gene: STN1 was added
gene: STN1 was added to Achromatopsia. Sources: Literature
Mode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STN1 were set to 27432940; 32627942
Phenotypes for gene: STN1 were set to bone marrow failure; dystonia; premature ageing; leukodystrophy; retinal telangiactasis
Penetrance for gene: STN1 were set to Complete
Achromatopsia v1.0 Bryony Thompson promoted panel to version 1.0
Achromatopsia v0.28 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Achromatopsia v0.27 PDE6H Zornitza Stark changed review comment from: Variants in this gene cause a spectrum of disorders along the retinal cone dystrophy/achromatopsia spectrum. Two families reported only with achromatopsia.; to: Variants in this gene cause a spectrum of disorders along the retinal cone dystrophy/achromatopsia spectrum. Two families reported only with achromatopsia and bi-allelic variants.
Achromatopsia v0.27 PDE6H Zornitza Stark Marked gene: PDE6H as ready
Achromatopsia v0.27 PDE6H Zornitza Stark Gene: pde6h has been classified as Green List (High Evidence).
Achromatopsia v0.27 PDE6H Zornitza Stark Publications for gene: PDE6H were set to
Achromatopsia v0.26 PDE6H Zornitza Stark Mode of inheritance for gene: PDE6H was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Achromatopsia v0.25 PDE6H Zornitza Stark reviewed gene: PDE6H: Rating: GREEN; Mode of pathogenicity: None; Publications: 22901948; Phenotypes: Achromatopsia 6, MIM# 610024; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Achromatopsia v0.25 PDE6C Zornitza Stark Marked gene: PDE6C as ready
Achromatopsia v0.25 PDE6C Zornitza Stark Gene: pde6c has been classified as Green List (High Evidence).
Achromatopsia v0.25 PDE6C Zornitza Stark Phenotypes for gene: PDE6C were changed from Achromatopsia-5 to Achromatopsia-5; Cone dystrophy 4, MIM# 613093
Achromatopsia v0.24 PDE6C Zornitza Stark Publications for gene: PDE6C were set to
Achromatopsia v0.23 PDE6C Zornitza Stark reviewed gene: PDE6C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19615668, 30080950; Phenotypes: Cone dystrophy 4, MIM# 613093, Achromatopsia-5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Achromatopsia v0.23 CNGB3 Zornitza Stark Marked gene: CNGB3 as ready
Achromatopsia v0.23 CNGB3 Zornitza Stark Gene: cngb3 has been classified as Green List (High Evidence).
Achromatopsia v0.23 CNGB3 Zornitza Stark Publications for gene: CNGB3 were set to
Achromatopsia v0.22 CNGB3 Zornitza Stark reviewed gene: CNGB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17265047; Phenotypes: Achromatopsia 3, MIM# 262300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Achromatopsia v0.22 CNGA3 Zornitza Stark Marked gene: CNGA3 as ready
Achromatopsia v0.22 CNGA3 Zornitza Stark Gene: cnga3 has been classified as Green List (High Evidence).
Achromatopsia v0.22 CNGA3 Zornitza Stark Publications for gene: CNGA3 were set to
Achromatopsia v0.21 CNGA3 Zornitza Stark reviewed gene: CNGA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9662398, 11536077, 17265047; Phenotypes: Achromatopsia 2, MIM# 216900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Achromatopsia v0.21 Sue White removed gene:HSPA9 from the panel
Achromatopsia v0.20 HSPA9 Sue White Classified gene: HSPA9 as Green List (high evidence)
Achromatopsia v0.20 HSPA9 Sue White Gene: hspa9 has been classified as Green List (High Evidence).
Achromatopsia v0.19 HSPA9 Sue White gene: HSPA9 was added
gene: HSPA9 was added to Achromatopsia. Sources: Literature
Mode of inheritance for gene: HSPA9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSPA9 were set to 32869452; 26598328
Phenotypes for gene: HSPA9 were set to https://www.omim.org/entry/616854; skeletal anomalies; congenital cardiac and renal anomalies: marked small nose
Penetrance for gene: HSPA9 were set to Complete
Review for gene: HSPA9 was set to GREEN
Added comment: Biallelic variants cause a syndromic skeletal dysplasia with small nose, microtia and cardiac and renal malformations.
2/5 have developmental delay and corpus callosum anomalies
Sources: Literature
Achromatopsia v0.18 Bryony Thompson Panel status changed from internal to public
Achromatopsia v0.17 PDE6H Bryony Thompson Classified gene: PDE6H as Green List (high evidence)
Achromatopsia v0.17 PDE6H Bryony Thompson Gene: pde6h has been classified as Green List (High Evidence).
Achromatopsia v0.16 PDE6H Bryony Thompson gene: PDE6H was added
gene: PDE6H was added to Achromatopsia. Sources: Expert list
Mode of inheritance for gene: PDE6H was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PDE6H were set to Achromatopsia 6 MIM#610024
Achromatopsia v0.15 PDE6C Bryony Thompson Classified gene: PDE6C as Green List (high evidence)
Achromatopsia v0.15 PDE6C Bryony Thompson Gene: pde6c has been classified as Green List (High Evidence).
Achromatopsia v0.14 PDE6C Bryony Thompson gene: PDE6C was added
gene: PDE6C was added to Achromatopsia. Sources: Expert list
Mode of inheritance for gene: PDE6C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDE6C were set to Achromatopsia-5
Achromatopsia v0.13 CNGB3 Bryony Thompson Classified gene: CNGB3 as Green List (high evidence)
Achromatopsia v0.13 CNGB3 Bryony Thompson Gene: cngb3 has been classified as Green List (High Evidence).
Achromatopsia v0.12 CNGB3 Bryony Thompson gene: CNGB3 was added
gene: CNGB3 was added to Achromatopsia. Sources: Expert list
Mode of inheritance for gene: CNGB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNGB3 were set to Achromatopsia 3 MIM#262300
Achromatopsia v0.11 CNGA3 Bryony Thompson Classified gene: CNGA3 as Green List (high evidence)
Achromatopsia v0.11 CNGA3 Bryony Thompson Gene: cnga3 has been classified as Green List (High Evidence).
Achromatopsia v0.10 CNGA3 Bryony Thompson gene: CNGA3 was added
gene: CNGA3 was added to Achromatopsia. Sources: Expert list
Mode of inheritance for gene: CNGA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNGA3 were set to Achromatopsia 2 MIM#216900
Achromatopsia v0.9 RGS9BP Bryony Thompson Marked gene: RGS9BP as ready
Achromatopsia v0.9 RGS9BP Bryony Thompson Gene: rgs9bp has been classified as Green List (High Evidence).
Achromatopsia v0.9 RGS9BP Bryony Thompson Classified gene: RGS9BP as Green List (high evidence)
Achromatopsia v0.9 RGS9BP Bryony Thompson Gene: rgs9bp has been classified as Green List (High Evidence).
Achromatopsia v0.8 RGS9BP Bryony Thompson gene: RGS9BP was added
gene: RGS9BP was added to Achromatopsia. Sources: Expert list
Mode of inheritance for gene: RGS9BP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RGS9BP were set to 14702087; 19818506
Phenotypes for gene: RGS9BP were set to Bradyopsia MIM#608415
Review for gene: RGS9BP was set to GREEN
Added comment: At least 3 families reported with homozygous variants
Sources: Expert list
Achromatopsia v0.7 RGS9 Bryony Thompson Marked gene: RGS9 as ready
Achromatopsia v0.7 RGS9 Bryony Thompson Gene: rgs9 has been classified as Green List (High Evidence).
Achromatopsia v0.7 RGS9 Bryony Thompson Classified gene: RGS9 as Green List (high evidence)
Achromatopsia v0.7 RGS9 Bryony Thompson Gene: rgs9 has been classified as Green List (High Evidence).
Achromatopsia v0.6 RGS9 Bryony Thompson gene: RGS9 was added
gene: RGS9 was added to Achromatopsia. Sources: Expert list
Mode of inheritance for gene: RGS9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RGS9 were set to 14702087; 10676965; 29107794
Phenotypes for gene: RGS9 were set to Bradyopsia MIM#608415
Review for gene: RGS9 was set to GREEN
Added comment: At least 7 families reported with homozygous variants and a supporting null mouse model.
Sources: Expert list
Achromatopsia v0.4 GNAT2 Bryony Thompson Marked gene: GNAT2 as ready
Achromatopsia v0.4 GNAT2 Bryony Thompson Gene: gnat2 has been classified as Green List (High Evidence).
Achromatopsia v0.4 GNAT2 Bryony Thompson Classified gene: GNAT2 as Green List (high evidence)
Achromatopsia v0.4 GNAT2 Bryony Thompson Gene: gnat2 has been classified as Green List (High Evidence).
Achromatopsia v0.3 GNAT2 Bryony Thompson gene: GNAT2 was added
gene: GNAT2 was added to Achromatopsia. Sources: Expert list
Mode of inheritance for gene: GNAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNAT2 were set to 32203983; 17251445
Phenotypes for gene: GNAT2 were set to Achromatopsia 4 MIM#613856
Review for gene: GNAT2 was set to GREEN
Added comment: Nine cases from four unrelated consanguineous families and a supporting zebrafish model.
Sources: Expert list
Achromatopsia v0.2 ATF6 Bryony Thompson Marked gene: ATF6 as ready
Achromatopsia v0.2 ATF6 Bryony Thompson Gene: atf6 has been classified as Green List (High Evidence).
Achromatopsia v0.2 ATF6 Bryony Thompson Classified gene: ATF6 as Green List (high evidence)
Achromatopsia v0.2 ATF6 Bryony Thompson Gene: atf6 has been classified as Green List (High Evidence).
Achromatopsia v0.1 ATF6 Bryony Thompson gene: ATF6 was added
gene: ATF6 was added to Achromatopsia. Sources: Expert list
Mode of inheritance for gene: ATF6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATF6 were set to 26063662; 26029869
Phenotypes for gene: ATF6 were set to Achromatopsia 7 MIM#616517
Review for gene: ATF6 was set to GREEN
Added comment: At least 11 families reported with the biallelic variants and a null mouse model with retinal degeneration.
Sources: Expert list
Achromatopsia v0.0 Bryony Thompson Added Panel Achromatopsia
Set panel types to: Royal Melbourne Hospital; Rare Disease