Activity

Filter

Cancel
Date Panel Item Activity
74 actions
Chronic granulomatous disease v2.0 CYBA Gene migrated from ENSG00000051523 to ENSG00000051523 (gene set migration)
Chronic granulomatous disease v2.0 NOD2 Gene migrated from ENSG00000167207 to ENSG00000167207 (gene set migration)
Chronic granulomatous disease v2.0 CYBC1 Gene symbol changed from C17orf62 to CYBC1 during gene set migration (ENSG00000178927 -> ENSG00000178927)
Chronic granulomatous disease v2.0 NCF2 Gene migrated from ENSG00000116701 to ENSG00000116701 (gene set migration)
Chronic granulomatous disease v2.0 CYBB Gene migrated from ENSG00000165168 to ENSG00000165168 (gene set migration)
Chronic granulomatous disease v2.0 NCF1 Gene migrated from ENSG00000158517 to ENSG00000158517 (gene set migration)
Chronic granulomatous disease v2.0 NCF4 Gene migrated from ENSG00000100365 to ENSG00000100365 (gene set migration)
Chronic granulomatous disease v2.0 G6PD Gene migrated from ENSG00000160211 to ENSG00000160211 (gene set migration)
Chronic granulomatous disease v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.3
Chronic granulomatous disease v1.3 Zornitza Stark HPO terms changed from to Recurrent bacterial infections, HP:0002718
List of related panels changed from Chronic granulomatous disease; MONDO:0018305 to Chronic granulomatous disease; MONDO:0018305; Recurrent bacterial infections; HP:0002718
Chronic granulomatous disease v1.2 Zornitza Stark List of related panels changed from to Chronic granulomatous disease; MONDO:0018305
Chronic granulomatous disease v1.0 Zornitza Stark promoted panel to version 1.0
Chronic granulomatous disease v0.18 G6PD Zornitza Stark Marked gene: G6PD as ready
Chronic granulomatous disease v0.18 G6PD Zornitza Stark Gene: g6pd has been classified as Green List (High Evidence).
Chronic granulomatous disease v0.18 G6PD Zornitza Stark Publications for gene: G6PD were set to
Chronic granulomatous disease v0.17 G6PD Zornitza Stark reviewed gene: G6PD: Rating: GREEN; Mode of pathogenicity: None; Publications: 34175765, 27458052; Phenotypes: Haemolytic anemia, G6PD deficient (favism), MIM# 300908; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Chronic granulomatous disease v0.17 C17orf62 Zornitza Stark Marked gene: C17orf62 as ready
Chronic granulomatous disease v0.17 C17orf62 Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name: CYBC1
Chronic granulomatous disease v0.17 C17orf62 Zornitza Stark Gene: c17orf62 has been classified as Green List (High Evidence).
Chronic granulomatous disease v0.17 C17orf62 Zornitza Stark Tag new gene name tag was added to gene: C17orf62.
Chronic granulomatous disease v0.17 NCF2 Zornitza Stark Marked gene: NCF2 as ready
Chronic granulomatous disease v0.17 NCF2 Zornitza Stark Gene: ncf2 has been classified as Green List (High Evidence).
Chronic granulomatous disease v0.17 NCF2 Zornitza Stark Publications for gene: NCF2 were set to
Chronic granulomatous disease v0.16 NCF2 Zornitza Stark reviewed gene: NCF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7795241, 10498624; Phenotypes: Chronic granulomatous disease 2, autosomal recessive, MIM# 233710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chronic granulomatous disease v0.16 CYBB Zornitza Stark Marked gene: CYBB as ready
Chronic granulomatous disease v0.16 CYBB Zornitza Stark Gene: cybb has been classified as Green List (High Evidence).
Chronic granulomatous disease v0.16 CYBB Zornitza Stark Publications for gene: CYBB were set to
Chronic granulomatous disease v0.15 CYBB Zornitza Stark reviewed gene: CYBB: Rating: GREEN; Mode of pathogenicity: None; Publications: 2556453, 1710153, 9585602; Phenotypes: Chronic granulomatous disease, X-linked, MIM# 306400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Chronic granulomatous disease v0.15 NCF1 Zornitza Stark Marked gene: NCF1 as ready
Chronic granulomatous disease v0.15 NCF1 Zornitza Stark Gene: ncf1 has been classified as Green List (High Evidence).
Chronic granulomatous disease v0.15 NCF1 Zornitza Stark Phenotypes for gene: NCF1 were changed from Chronic granulomatous disease due to deficiency of NCF-1 MIM#233700 to Chronic granulomatous disease 1, autosomal recessive, MIM# 233700
Chronic granulomatous disease v0.14 NCF1 Zornitza Stark Publications for gene: NCF1 were set to
Chronic granulomatous disease v0.13 NCF1 Zornitza Stark reviewed gene: NCF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 2011585, 11133775, 10706888, 16972229, 16972229; Phenotypes: Chronic granulomatous disease 1, autosomal recessive, MIM# 233700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chronic granulomatous disease v0.13 CYBA Zornitza Stark Marked gene: CYBA as ready
Chronic granulomatous disease v0.13 CYBA Zornitza Stark Gene: cyba has been classified as Green List (High Evidence).
Chronic granulomatous disease v0.13 CYBA Zornitza Stark Publications for gene: CYBA were set to
Chronic granulomatous disease v0.12 CYBA Zornitza Stark reviewed gene: CYBA: Rating: GREEN; Mode of pathogenicity: None; Publications: 2770793; Phenotypes: Chronic granulomatous disease 4, autosomal recessive, MIM# 233690, MONDO:0009308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chronic granulomatous disease v0.12 C17orf62 Zornitza Stark Marked gene: C17orf62 as ready
Chronic granulomatous disease v0.12 C17orf62 Zornitza Stark Gene: c17orf62 has been classified as Green List (High Evidence).
Chronic granulomatous disease v0.12 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Chronic granulomatous disease v0.11 NOD2 Zornitza Stark Marked gene: NOD2 as ready
Chronic granulomatous disease v0.11 NOD2 Zornitza Stark Gene: nod2 has been classified as Green List (High Evidence).
Chronic granulomatous disease v0.11 NOD2 Zornitza Stark Phenotypes for gene: NOD2 were changed from Blau syndrome MIM#186580 to Blau syndrome MIM#186580; granulomatous disease
Chronic granulomatous disease v0.10 NOD2 Zornitza Stark Publications for gene: NOD2 were set to
Chronic granulomatous disease v0.9 NOD2 Zornitza Stark reviewed gene: NOD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26164256; Phenotypes: Blau syndrome syndrome, MIM# 186580, granulomatous disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Chronic granulomatous disease v0.9 Bryony Thompson Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Chronic granulomatous disease v0.8 NCF4 Bryony Thompson Classified gene: NCF4 as Green List (high evidence)
Chronic granulomatous disease v0.8 NCF4 Bryony Thompson Gene: ncf4 has been classified as Green List (High Evidence).
Chronic granulomatous disease v0.7 NCF4 Bryony Thompson reviewed gene: NCF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 19692703, 16880254, 29969437; Phenotypes: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chronic granulomatous disease v0.7 C17orf62 Bryony Thompson edited their review of gene: C17orf62: Changed publications: 28600779, 30361506, 28351984, 30312704
Chronic granulomatous disease v0.7 C17orf62 Bryony Thompson Classified gene: C17orf62 as Green List (high evidence)
Chronic granulomatous disease v0.7 C17orf62 Bryony Thompson Gene: c17orf62 has been classified as Green List (High Evidence).
Chronic granulomatous disease v0.6 C17orf62 Bryony Thompson reviewed gene: C17orf62: Rating: GREEN; Mode of pathogenicity: None; Publications: 28600779, 30361506, 28351984; Phenotypes: Chronic granulomatous disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chronic granulomatous disease v0.6 NOD2 Bryony Thompson Classified gene: NOD2 as Green List (high evidence)
Chronic granulomatous disease v0.6 NOD2 Bryony Thompson Gene: nod2 has been classified as Green List (High Evidence).
Chronic granulomatous disease v0.5 NCF2 Bryony Thompson Classified gene: NCF2 as Green List (high evidence)
Chronic granulomatous disease v0.5 NCF2 Bryony Thompson Gene: ncf2 has been classified as Green List (High Evidence).
Chronic granulomatous disease v0.4 NCF1 Bryony Thompson Classified gene: NCF1 as Green List (high evidence)
Chronic granulomatous disease v0.4 NCF1 Bryony Thompson Gene: ncf1 has been classified as Green List (High Evidence).
Chronic granulomatous disease v0.3 G6PD Bryony Thompson Classified gene: G6PD as Green List (high evidence)
Chronic granulomatous disease v0.3 G6PD Bryony Thompson Gene: g6pd has been classified as Green List (High Evidence).
Chronic granulomatous disease v0.2 CYBB Bryony Thompson Classified gene: CYBB as Green List (high evidence)
Chronic granulomatous disease v0.2 CYBB Bryony Thompson Gene: cybb has been classified as Green List (High Evidence).
Chronic granulomatous disease v0.1 CYBA Bryony Thompson Classified gene: CYBA as Green List (high evidence)
Chronic granulomatous disease v0.1 CYBA Bryony Thompson Gene: cyba has been classified as Green List (High Evidence).
Chronic granulomatous disease v0.0 NOD2 Bryony Thompson gene: NOD2 was added
gene: NOD2 was added to Chronic granulomatous disease. Sources: Expert list
Mode of inheritance for gene: NOD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NOD2 were set to Blau syndrome MIM#186580
Chronic granulomatous disease v0.0 NCF4 Bryony Thompson gene: NCF4 was added
gene: NCF4 was added to Chronic granulomatous disease. Sources: Expert list
Mode of inheritance for gene: NCF4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NCF4 were set to Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960
Chronic granulomatous disease v0.0 NCF2 Bryony Thompson gene: NCF2 was added
gene: NCF2 was added to Chronic granulomatous disease. Sources: Expert list
Mode of inheritance for gene: NCF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NCF2 were set to Chronic granulomatous disease due to deficiency of NCF-2 MIM#233710
Chronic granulomatous disease v0.0 NCF1 Bryony Thompson gene: NCF1 was added
gene: NCF1 was added to Chronic granulomatous disease. Sources: Expert list
Mode of inheritance for gene: NCF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NCF1 were set to Chronic granulomatous disease due to deficiency of NCF-1 MIM#233700
Chronic granulomatous disease v0.0 G6PD Bryony Thompson gene: G6PD was added
gene: G6PD was added to Chronic granulomatous disease. Sources: Expert list
Mode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: G6PD were set to Hemolytic anemia, G6PD deficient (favism) MIM#300908
Chronic granulomatous disease v0.0 CYBB Bryony Thompson gene: CYBB was added
gene: CYBB was added to Chronic granulomatous disease. Sources: Expert list
Mode of inheritance for gene: CYBB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CYBB were set to Chronic granulomatous disease, X-linked MIM#306400
Chronic granulomatous disease v0.0 CYBA Bryony Thompson gene: CYBA was added
gene: CYBA was added to Chronic granulomatous disease. Sources: Expert list
Mode of inheritance for gene: CYBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYBA were set to Chronic granulomatous disease, autosomal, due to deficiency of CYBA MIM#233690
Chronic granulomatous disease v0.0 C17orf62 Bryony Thompson gene: C17orf62 was added
gene: C17orf62 was added to Chronic granulomatous disease. Sources: Expert list
Mode of inheritance for gene: C17orf62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C17orf62 were set to 30361506; 30312704
Phenotypes for gene: C17orf62 were set to Chronic granulomatous disease
Chronic granulomatous disease v0.0 Bryony Thompson Added panel Chronic granulomatous disease