PanelApp

Activity

Filter

Cancel
Date Panel Item Activity
76 actions
Achromatopsia v2.0 PDE6H Gene migrated from ENSG00000139053 to ENSG00000139053 (gene set migration)
Achromatopsia v2.0 PDE6C Gene migrated from ENSG00000095464 to ENSG00000095464 (gene set migration)
Achromatopsia v2.0 CNGB3 Gene migrated from ENSG00000170289 to ENSG00000170289 (gene set migration)
Achromatopsia v2.0 CNGA3 Gene migrated from ENSG00000144191 to ENSG00000144191 (gene set migration)
Achromatopsia v2.0 RGS9BP Gene migrated from ENSG00000186326 to ENSG00000186326 (gene set migration)
Achromatopsia v2.0 RGS9 Gene migrated from ENSG00000108370 to ENSG00000108370 (gene set migration)
Achromatopsia v2.0 GNAT2 Gene migrated from ENSG00000134183 to ENSG00000134183 (gene set migration)
Achromatopsia v2.0 ATF6 Gene migrated from ENSG00000118217 to ENSG00000118217 (gene set migration)
Achromatopsia v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.6
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