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Complement Deficiencies v0.73 CFB Zornitza Stark Marked gene: CFB as ready
Complement Deficiencies v0.73 CFB Zornitza Stark Gene: cfb has been classified as Amber List (Moderate Evidence).
Complement Deficiencies v0.73 Zornitza Stark HPO terms changed from to Abnormality of complement system, HP:0005339
List of related panels changed from to Abnormality of complement system; HP:0005339
Complement Deficiencies v0.72 C6 Zornitza Stark Tag treatable tag was added to gene: C6.
Complement Deficiencies v0.72 C5 Crystle Lee reviewed gene: C5: Rating: AMBER; Mode of pathogenicity: None; Publications: 31440263, 23743184, 15488949, 15778377, 23371790; Phenotypes: C5 deficiency (MIM#609536); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.72 C8A Zornitza Stark Marked gene: C8A as ready
Complement Deficiencies v0.72 C8A Zornitza Stark Gene: c8a has been classified as Amber List (Moderate Evidence).
Complement Deficiencies v0.72 C8A Zornitza Stark Phenotypes for gene: C8A were changed from to C8 deficiency, type I MIM#613790
Complement Deficiencies v0.71 C8A Zornitza Stark Publications for gene: C8A were set to
Complement Deficiencies v0.70 C8A Zornitza Stark Mode of inheritance for gene: C8A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.69 C8A Zornitza Stark Classified gene: C8A as Amber List (moderate evidence)
Complement Deficiencies v0.69 C8A Zornitza Stark Gene: c8a has been classified as Amber List (Moderate Evidence).
Complement Deficiencies v0.68 C8A Zornitza Stark reviewed gene: C8A: Rating: AMBER; Mode of pathogenicity: None; Publications: 9759902, 32769119; Phenotypes: C8 deficiency, type I MIM#613790; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.68 C4A Ain Roesley edited their review of gene: C4A: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.68 C4A Ain Roesley Mode of inheritance for gene: C4A was changed from Other to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.67 C4B Zornitza Stark Tag for review was removed from gene: C4B.
Complement Deficiencies v0.67 C4B Ain Roesley Mode of inheritance for gene: C4B was changed from Other to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.66 C4B Ain Roesley edited their review of gene: C4B: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.66 C4A Ain Roesley Phenotypes for gene: C4A were changed from C4a deficiency MIM#614380; susceptibility systemic lupus erythematosus to C4a deficiency MIM#614380; susceptibility systemic lupus erythematosus
Complement Deficiencies v0.66 C4A Ain Roesley Mode of inheritance for gene: C4A was changed from Other to Other
Complement Deficiencies v0.65 C4A Ain Roesley Phenotypes for gene: C4A were changed from C4a deficiency MIM#614380; susceptibility systemic lupus erythematosus to C4a deficiency MIM#614380; susceptibility systemic lupus erythematosus
Complement Deficiencies v0.66 C4A Ain Roesley Mode of inheritance for gene: C4A was changed from Other to Other
Complement Deficiencies v0.66 C4A Ain Roesley Tag SV/CNV tag was added to gene: C4A.
Complement Deficiencies v0.66 C4A Ain Roesley Phenotypes for gene: C4A were changed from to C4a deficiency MIM#614380; susceptibility systemic lupus erythematosus
Complement Deficiencies v0.65 C4A Ain Roesley Publications for gene: C4A were set to
Complement Deficiencies v0.65 C4A Ain Roesley Mode of inheritance for gene: C4A was changed from Unknown to Other
Complement Deficiencies v0.65 C4A Ain Roesley Classified gene: C4A as Amber List (moderate evidence)
Complement Deficiencies v0.65 C4A Ain Roesley Gene: c4a has been classified as Amber List (Moderate Evidence).
Complement Deficiencies v0.64 C4A Ain Roesley Marked gene: C4A as ready
Complement Deficiencies v0.64 C4A Ain Roesley Gene: c4a has been classified as Green List (High Evidence).
Complement Deficiencies v0.64 C4A Ain Roesley edited their review of gene: C4A: Changed rating: AMBER
Complement Deficiencies v0.64 C4A Ain Roesley edited their review of gene: C4A: Changed publications: 22387014, 22737222, 15998580, 10529130, 15294999, 32048120
Complement Deficiencies v0.64 C4A Ain Roesley changed review comment from: Associated with increased risk for systemic lupus erythematosus (SLE).
This is mostly involving haplotypes, gene copy number, gene conversions with/without C4B; to: Associated with increased risk for systemic lupus erythematosus (SLE).
This is mostly involving haplotypes, gene copy number, gene conversions with/without C4B

There are no LP/P SNV in clinvar

PMID: 32048120;
2019 Update of the IUIS Phenotypical Classification indicates that complete C4 deficiency requires both C4A+C4B and C4A alone leads to partial deficiency
Complement Deficiencies v0.64 C4B Ain Roesley Mode of inheritance for gene: C4B was changed from Other to Other
Complement Deficiencies v0.63 C4B Ain Roesley Phenotypes for gene: C4B were changed from to susceptibility to autoimmune disease; C4B deficiency MIM#614379
Complement Deficiencies v0.63 C4B Ain Roesley Publications for gene: C4B were set to
Complement Deficiencies v0.63 C4B Ain Roesley Mode of inheritance for gene: C4B was changed from Unknown to Other
Complement Deficiencies v0.63 C4B Ain Roesley Marked gene: C4B as ready
Complement Deficiencies v0.63 C4B Ain Roesley Gene: c4b has been classified as Amber List (Moderate Evidence).
Complement Deficiencies v0.63 C4B Ain Roesley Tag SV/CNV tag was added to gene: C4B.
Complement Deficiencies v0.63 C4B Ain Roesley Classified gene: C4B as Amber List (moderate evidence)
Complement Deficiencies v0.63 C4B Ain Roesley Gene: c4b has been classified as Amber List (Moderate Evidence).
Complement Deficiencies v0.62 C4B Ain Roesley edited their review of gene: C4B: Changed rating: AMBER
Complement Deficiencies v0.62 C4B Ain Roesley edited their review of gene: C4B: Changed publications: 34764957, 12626442, 22387014, 17503323, 32048120
Complement Deficiencies v0.62 C4B Ain Roesley changed review comment from: Associated with increased risk for systemic lupus erythematosus (SLE).
This is mostly involving haplotypes, gene copy number, gene conversions with/without C4A; to: Associated with increased risk for systemic lupus erythematosus (SLE).
This is mostly involving haplotypes, gene copy number, gene conversions with/without C4A

no LP/P SNVs in clinvar. (1 LP but evidence provided indicates that it was classified as a VUS)

PMID: 32048120;
2019 Update of the IUIS Phenotypical Classification indicates that complete C4 deficiency requires both C4A+C4B and C4B alone leads to partial deficiency
Complement Deficiencies v0.62 C9 Ain Roesley Marked gene: C9 as ready
Complement Deficiencies v0.62 C9 Ain Roesley Gene: c9 has been classified as Green List (High Evidence).
Complement Deficiencies v0.62 C9 Ain Roesley Phenotypes for gene: C9 were changed from to C9 deficiency MIM#613825
Complement Deficiencies v0.61 C9 Ain Roesley Publications for gene: C9 were set to
Complement Deficiencies v0.60 C9 Ain Roesley Mode of inheritance for gene: C9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.59 C9 Ain Roesley reviewed gene: C9: Rating: GREEN; Mode of pathogenicity: None; Publications: 9570574, 9703418, 9144525, 31440263, 9634479; Phenotypes: C9 deficiency MIM#613825; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Complement Deficiencies v0.59 C8B Ain Roesley Marked gene: C8B as ready
Complement Deficiencies v0.59 C8B Ain Roesley Gene: c8b has been classified as Green List (High Evidence).
Complement Deficiencies v0.59 C8B Ain Roesley Phenotypes for gene: C8B were changed from to C8 deficiency, type II MIM#613789
Complement Deficiencies v0.58 C8B Ain Roesley Mode of inheritance for gene: C8B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.57 C8B Ain Roesley reviewed gene: C8B: Rating: GREEN; Mode of pathogenicity: None; Publications: 8098723, 33563058, 27183977, 9476133, 19434484; Phenotypes: C8 deficiency, type II MIM#613789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Complement Deficiencies v0.57 C7 Ain Roesley Marked gene: C7 as ready
Complement Deficiencies v0.57 C7 Ain Roesley Gene: c7 has been classified as Green List (High Evidence).
Complement Deficiencies v0.57 C7 Ain Roesley Phenotypes for gene: C7 were changed from to C7 deficiency MIM#610102
Complement Deficiencies v0.56 C7 Ain Roesley Publications for gene: C7 were set to 22206826; 20591074; 17407100; 16771861; 16552475
Complement Deficiencies v0.56 C7 Ain Roesley Publications for gene: C7 were set to
Complement Deficiencies v0.55 C7 Ain Roesley Mode of inheritance for gene: C7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.54 C7 Ain Roesley reviewed gene: C7: Rating: GREEN; Mode of pathogenicity: None; Publications: 22206826, 20591074, 17407100, 16771861, 16552475; Phenotypes: C7 deficiency MIM#610102; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Complement Deficiencies v0.54 C6 Ain Roesley Publications for gene: C6 were set to 23537992; 24378253; 17257682; 22668955; 32670577
Complement Deficiencies v0.53 C6 Ain Roesley Mode of inheritance for gene: C6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.53 C6 Ain Roesley Publications for gene: C6 were set to 23537992; 24378253; 17257682; 22668955; 32670577
Complement Deficiencies v0.53 C6 Ain Roesley Phenotypes for gene: C6 were changed from to C6 deficiency MIM#612446
Complement Deficiencies v0.53 C6 Ain Roesley Publications for gene: C6 were set to
Complement Deficiencies v0.53 C6 Ain Roesley Mode of inheritance for gene: C6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.52 C6 Ain Roesley Marked gene: C6 as ready
Complement Deficiencies v0.52 C6 Ain Roesley Gene: c6 has been classified as Green List (High Evidence).
Complement Deficiencies v0.52 C6 Ain Roesley reviewed gene: C6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23537992, 24378253, 17257682, 22668955, 32670577; Phenotypes: C6 deficiency MIM#612446; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Complement Deficiencies v0.52 C5 Ain Roesley Phenotypes for gene: C5 were changed from C5 deficiency MIM#609536 to C5 deficiency MIM#609536
Complement Deficiencies v0.51 C5 Ain Roesley Mode of inheritance for gene: C5 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.51 C5 Ain Roesley Publications for gene: C5 were set to 23743184; 15488949; 15778377; 23371790
Complement Deficiencies v0.50 C5 Ain Roesley Publications for gene: C5 were set to
Complement Deficiencies v0.50 C5 Ain Roesley Phenotypes for gene: C5 were changed from to C5 deficiency MIM#609536
Complement Deficiencies v0.50 C5 Ain Roesley Mode of inheritance for gene: C5 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.50 C5 Ain Roesley Mode of pathogenicity for gene: C5 was changed from to None
Complement Deficiencies v0.50 C5 Ain Roesley Mode of inheritance for gene: C5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.49 C5 Ain Roesley Marked gene: C5 as ready
Complement Deficiencies v0.49 C5 Ain Roesley Gene: c5 has been classified as Green List (High Evidence).
Complement Deficiencies v0.49 C5 Ain Roesley reviewed gene: C5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23743184, 15488949, 15778377, 23371790; Phenotypes: C5 deficiency MIM#609536; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Complement Deficiencies v0.49 C4A Ain Roesley reviewed gene: C4A: Rating: RED; Mode of pathogenicity: None; Publications: 22387014, 22737222, 15998580, 10529130, 15294999; Phenotypes: C4a deficiency MIM#614380, susceptibility systemic lupus erythematosus; Mode of inheritance: Other; Current diagnostic: yes
Complement Deficiencies v0.49 C4B Ain Roesley reviewed gene: C4B: Rating: RED; Mode of pathogenicity: None; Publications: 34764957, 12626442, 22387014, 17503323; Phenotypes: susceptibility to autoimmune disease, C4B deficiency MIM#614379; Mode of inheritance: Other; Current diagnostic: yes
Complement Deficiencies v0.49 C3 Ain Roesley Phenotypes for gene: C3 were changed from C3 deficiency MIM#613779 to C3 deficiency MIM#613779
Complement Deficiencies v0.49 C3 Ain Roesley Publications for gene: C3 were set to 15781264; 1944729; 11813855; 26847111
Complement Deficiencies v0.48 C3 Ain Roesley Phenotypes for gene: C3 were changed from to C3 deficiency MIM#613779
Complement Deficiencies v0.48 C3 Ain Roesley Publications for gene: C3 were set to
Complement Deficiencies v0.48 C3 Ain Roesley Mode of pathogenicity for gene: C3 was changed from to None
Complement Deficiencies v0.48 C3 Ain Roesley Marked gene: C3 as ready
Complement Deficiencies v0.48 C3 Ain Roesley Gene: c3 has been classified as Green List (High Evidence).
Complement Deficiencies v0.48 C3 Ain Roesley Mode of inheritance for gene: C3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.47 C3 Ain Roesley reviewed gene: C3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15781264, 1944729, 11813855, 26847111; Phenotypes: C3 deficiency MIM#613779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Complement Deficiencies v0.47 C1S Ain Roesley Phenotypes for gene: C1S were changed from to C1s deficiency MIM#613783
Complement Deficiencies v0.47 C1S Ain Roesley Publications for gene: C1S were set to
Complement Deficiencies v0.47 C1S Ain Roesley Mode of inheritance for gene: C1S was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.46 C1S Ain Roesley Marked gene: C1S as ready
Complement Deficiencies v0.46 C1S Ain Roesley Gene: c1s has been classified as Green List (High Evidence).
Complement Deficiencies v0.46 C1S Ain Roesley reviewed gene: C1S: Rating: GREEN; Mode of pathogenicity: None; Publications: 19155518, 20191570, 18062908, 11390518, 9856483; Phenotypes: C1s deficiency MIM#613783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Complement Deficiencies v0.46 C1QC Ain Roesley edited their review of gene: C1QC: Changed publications: 21654842, 8630118, 24157463
Complement Deficiencies v0.46 C1QC Ain Roesley Marked gene: C1QC as ready
Complement Deficiencies v0.46 C1QC Ain Roesley Gene: c1qc has been classified as Green List (High Evidence).
Complement Deficiencies v0.46 C1QC Ain Roesley Publications for gene: C1QC were set to
Complement Deficiencies v0.45 C1QC Ain Roesley Phenotypes for gene: C1QC were changed from to C1q deficiency MIM#613652
Complement Deficiencies v0.45 C1QC Ain Roesley Mode of inheritance for gene: C1QC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.44 C1QC Ain Roesley reviewed gene: C1QC: Rating: GREEN; Mode of pathogenicity: None; Publications: 8630118; Phenotypes: C1q deficiency MIM#613652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Complement Deficiencies v0.44 MASP2 Bryony Thompson Publications for gene: MASP2 were set to
Complement Deficiencies v0.43 C1QB Zornitza Stark Marked gene: C1QB as ready
Complement Deficiencies v0.43 C1QB Zornitza Stark Gene: c1qb has been classified as Green List (High Evidence).
Complement Deficiencies v0.43 C1QB Zornitza Stark Phenotypes for gene: C1QB were changed from to C1q deficiency, MIM# 613652
Complement Deficiencies v0.42 C1QB Zornitza Stark Publications for gene: C1QB were set to 2894352; 17513176
Complement Deficiencies v0.42 C1QB Zornitza Stark Publications for gene: C1QB were set to
Complement Deficiencies v0.41 C1QB Zornitza Stark Mode of inheritance for gene: C1QB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.40 C1QB Zornitza Stark reviewed gene: C1QB: Rating: GREEN; Mode of pathogenicity: None; Publications: 2894352, 17513176; Phenotypes: C1q deficiency, MIM# 613652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.40 C1QA Zornitza Stark Marked gene: C1QA as ready
Complement Deficiencies v0.40 C1QA Zornitza Stark Gene: c1qa has been classified as Green List (High Evidence).
Complement Deficiencies v0.40 C1QA Zornitza Stark Phenotypes for gene: C1QA were changed from to C1q deficiency, MIM# 613652
Complement Deficiencies v0.39 C1QA Zornitza Stark Publications for gene: C1QA were set to
Complement Deficiencies v0.38 C1QA Zornitza Stark Mode of inheritance for gene: C1QA was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.37 C1QA Zornitza Stark Mode of inheritance for gene: C1QA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.36 C1QA Zornitza Stark reviewed gene: C1QA: Rating: GREEN; Mode of pathogenicity: None; Publications: 9225968, 21654842, 9590289; Phenotypes: C1q deficiency, MIM# 613652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.36 C4A Bryony Thompson Tag for review tag was added to gene: C4A.
Complement Deficiencies v0.36 C4B Bryony Thompson Tag for review tag was added to gene: C4B.
Complement Deficiencies v0.35 THBD Zornitza Stark Marked gene: THBD as ready
Complement Deficiencies v0.35 THBD Zornitza Stark Gene: thbd has been classified as Red List (Low Evidence).
Complement Deficiencies v0.35 THBD Zornitza Stark Phenotypes for gene: THBD were changed from to {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926
Complement Deficiencies v0.34 THBD Zornitza Stark Publications for gene: THBD were set to
Complement Deficiencies v0.33 THBD Zornitza Stark Mode of inheritance for gene: THBD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Complement Deficiencies v0.32 THBD Zornitza Stark Classified gene: THBD as Red List (low evidence)
Complement Deficiencies v0.32 THBD Zornitza Stark Gene: thbd has been classified as Red List (Low Evidence).
Complement Deficiencies v0.31 THBD Zornitza Stark reviewed gene: THBD: Rating: RED; Mode of pathogenicity: None; Publications: 29500241, 19625716; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Complement Deficiencies v0.31 MASP2 Zornitza Stark Marked gene: MASP2 as ready
Complement Deficiencies v0.31 MASP2 Zornitza Stark Gene: masp2 has been classified as Red List (Low Evidence).
Complement Deficiencies v0.31 MASP2 Zornitza Stark Phenotypes for gene: MASP2 were changed from to MASP2 deficiency, MIM# 613791
Complement Deficiencies v0.30 MASP2 Zornitza Stark Mode of inheritance for gene: MASP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.29 MASP2 Zornitza Stark Classified gene: MASP2 as Red List (low evidence)
Complement Deficiencies v0.29 MASP2 Zornitza Stark Gene: masp2 has been classified as Red List (Low Evidence).
Complement Deficiencies v0.28 MASP2 Zornitza Stark reviewed gene: MASP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: MASP2 deficiency, MIM# 613791; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.28 ITGAM Zornitza Stark Marked gene: ITGAM as ready
Complement Deficiencies v0.28 ITGAM Zornitza Stark Gene: itgam has been classified as Red List (Low Evidence).
Complement Deficiencies v0.28 ITGAM Zornitza Stark Classified gene: ITGAM as Red List (low evidence)
Complement Deficiencies v0.28 ITGAM Zornitza Stark Gene: itgam has been classified as Red List (Low Evidence).
Complement Deficiencies v0.27 ITGAM Zornitza Stark reviewed gene: ITGAM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Complement Deficiencies v0.27 FCN3 Zornitza Stark Marked gene: FCN3 as ready
Complement Deficiencies v0.27 FCN3 Zornitza Stark Gene: fcn3 has been classified as Amber List (Moderate Evidence).
Complement Deficiencies v0.27 FCN3 Zornitza Stark Phenotypes for gene: FCN3 were changed from to Immunodeficiency due to ficolin 3 deficiency, MIM# 613860
Complement Deficiencies v0.26 FCN3 Zornitza Stark Publications for gene: FCN3 were set to
Complement Deficiencies v0.25 FCN3 Zornitza Stark Mode of inheritance for gene: FCN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.24 FCN3 Zornitza Stark Classified gene: FCN3 as Amber List (moderate evidence)
Complement Deficiencies v0.24 FCN3 Zornitza Stark Gene: fcn3 has been classified as Amber List (Moderate Evidence).
Complement Deficiencies v0.23 FCN3 Zornitza Stark reviewed gene: FCN3: Rating: AMBER; Mode of pathogenicity: None; Publications: 25662573, 22226667, 19535802, 20971976; Phenotypes: Immunodeficiency due to ficolin 3 deficiency, MIM# 613860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.23 CFHR5 Zornitza Stark Marked gene: CFHR5 as ready
Complement Deficiencies v0.23 CFHR5 Zornitza Stark Gene: cfhr5 has been classified as Red List (Low Evidence).
Complement Deficiencies v0.23 CFHR5 Zornitza Stark Phenotypes for gene: CFHR5 were changed from to Nephropathy due to CFHR5 deficiency, MIM# 614809
Complement Deficiencies v0.22 CFHR5 Zornitza Stark Classified gene: CFHR5 as Red List (low evidence)
Complement Deficiencies v0.22 CFHR5 Zornitza Stark Gene: cfhr5 has been classified as Red List (Low Evidence).
Complement Deficiencies v0.21 CFHR5 Zornitza Stark reviewed gene: CFHR5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephropathy due to CFHR5 deficiency, MIM# 614809; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Complement Deficiencies v0.21 CFHR4 Zornitza Stark Marked gene: CFHR4 as ready
Complement Deficiencies v0.21 CFHR4 Zornitza Stark Gene: cfhr4 has been classified as Red List (Low Evidence).
Complement Deficiencies v0.21 CFHR4 Zornitza Stark Classified gene: CFHR4 as Red List (low evidence)
Complement Deficiencies v0.21 CFHR4 Zornitza Stark Gene: cfhr4 has been classified as Red List (Low Evidence).
Complement Deficiencies v0.20 CFHR4 Zornitza Stark changed review comment from: Association is with aHUS, gene is on aHUS panel.; to: No Mendelian gene disease association I can find.
Complement Deficiencies v0.20 CFHR4 Zornitza Stark reviewed gene: CFHR4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Susceptibility to atypical haemolytic uraemic syndrome; Mode of inheritance: None
Complement Deficiencies v0.20 CFHR3 Zornitza Stark Marked gene: CFHR3 as ready
Complement Deficiencies v0.20 CFHR3 Zornitza Stark Gene: cfhr3 has been classified as Red List (Low Evidence).
Complement Deficiencies v0.20 CFHR3 Zornitza Stark Phenotypes for gene: CFHR3 were changed from to {Hemolytic uremic syndrome, atypical, susceptibility to}, MIM# 235400
Complement Deficiencies v0.19 CFHR3 Zornitza Stark Mode of inheritance for gene: CFHR3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Complement Deficiencies v0.18 CFHR3 Zornitza Stark Classified gene: CFHR3 as Red List (low evidence)
Complement Deficiencies v0.18 CFHR3 Zornitza Stark Gene: cfhr3 has been classified as Red List (Low Evidence).
Complement Deficiencies v0.17 CFHR3 Zornitza Stark reviewed gene: CFHR3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to}, MIM# 235400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Complement Deficiencies v0.17 CFHR2 Zornitza Stark Tag SV/CNV tag was added to gene: CFHR2.
Complement Deficiencies v0.17 CFHR2 Zornitza Stark Marked gene: CFHR2 as ready
Complement Deficiencies v0.17 CFHR2 Zornitza Stark Gene: cfhr2 has been classified as Red List (Low Evidence).
Complement Deficiencies v0.17 CFHR2 Zornitza Stark Phenotypes for gene: CFHR2 were changed from to C3 glomerulopathy; C3G; Immune complex MPGN; IC-MPGN
Complement Deficiencies v0.16 CFHR2 Zornitza Stark Publications for gene: CFHR2 were set to
Complement Deficiencies v0.15 CFHR2 Zornitza Stark Mode of inheritance for gene: CFHR2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Complement Deficiencies v0.14 CFHR2 Zornitza Stark Classified gene: CFHR2 as Red List (low evidence)
Complement Deficiencies v0.14 CFHR2 Zornitza Stark Gene: cfhr2 has been classified as Red List (Low Evidence).
Complement Deficiencies v0.13 CFHR2 Zornitza Stark reviewed gene: CFHR2: Rating: RED; Mode of pathogenicity: None; Publications: 24334459, 23728178, 20800271; Phenotypes: C3 glomerulopathy, C3G, Immune complex MPGN, IC-MPGN; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Complement Deficiencies v0.13 CFHR1 Zornitza Stark Marked gene: CFHR1 as ready
Complement Deficiencies v0.13 CFHR1 Zornitza Stark Gene: cfhr1 has been classified as Red List (Low Evidence).
Complement Deficiencies v0.13 CFHR1 Zornitza Stark Classified gene: CFHR1 as Red List (low evidence)
Complement Deficiencies v0.13 CFHR1 Zornitza Stark Gene: cfhr1 has been classified as Red List (Low Evidence).
Complement Deficiencies v0.12 CFHR1 Zornitza Stark reviewed gene: CFHR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Complement Deficiencies v0.12 CFB Zornitza Stark Phenotypes for gene: CFB were changed from to Complement factor B deficiency, MIM# 615561
Complement Deficiencies v0.11 CFB Zornitza Stark Publications for gene: CFB were set to
Complement Deficiencies v0.10 CFB Zornitza Stark Mode of inheritance for gene: CFB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.9 CFB Zornitza Stark Classified gene: CFB as Amber List (moderate evidence)
Complement Deficiencies v0.9 CFB Zornitza Stark Gene: cfb has been classified as Amber List (Moderate Evidence).
Complement Deficiencies v0.8 CFB Zornitza Stark reviewed gene: CFB: Rating: AMBER; Mode of pathogenicity: None; Publications: 24152280; Phenotypes: Complement factor B deficiency, MIM# 615561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.8 C8G Zornitza Stark Marked gene: C8G as ready
Complement Deficiencies v0.8 C8G Zornitza Stark Gene: c8g has been classified as Red List (Low Evidence).
Complement Deficiencies v0.8 C8G Zornitza Stark Classified gene: C8G as Red List (low evidence)
Complement Deficiencies v0.8 C8G Zornitza Stark Gene: c8g has been classified as Red List (Low Evidence).
Complement Deficiencies v0.7 C8G Zornitza Stark reviewed gene: C8G: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Complement Deficiencies v0.7 Zornitza Stark Panel name changed from Complement deficiencies to Complement Deficiencies
Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease
Complement Deficiencies v0.6 Zornitza Stark Panel name changed from Complement deficiencies_MelbourneGenomics_VCGS to Complement deficiencies
Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics
Complement Deficiencies v0.5 CD55 Zornitza Stark Marked gene: CD55 as ready
Complement Deficiencies v0.5 CD55 Zornitza Stark Gene: cd55 has been classified as Green List (High Evidence).
Complement Deficiencies v0.5 CD55 Zornitza Stark Classified gene: CD55 as Green List (high evidence)
Complement Deficiencies v0.5 CD55 Zornitza Stark Gene: cd55 has been classified as Green List (High Evidence).
Complement Deficiencies v0.4 CD55 Zornitza Stark gene: CD55 was added
gene: CD55 was added to Complement deficiencies_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: CD55 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD55 were set to 28657829; 28657861
Phenotypes for gene: CD55 were set to Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, MIM# 226300
Review for gene: CD55 was set to GREEN
Added comment: Nine families reported.
Sources: Expert list
Complement Deficiencies v0.2 Zornitza Stark Panel name changed from Complement deficiencies_MGHA_AGHA_VCGS to Complement deficiencies_MelbourneGenomics_VCGS
Complement Deficiencies v0.0 THBD Zornitza Stark gene: THBD was added
gene: THBD was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: THBD was set to Unknown
Complement Deficiencies v0.0 SERPING1 Zornitza Stark gene: SERPING1 was added
gene: SERPING1 was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: SERPING1 was set to Unknown
Complement Deficiencies v0.0 MASP2 Zornitza Stark gene: MASP2 was added
gene: MASP2 was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: MASP2 was set to Unknown
Complement Deficiencies v0.0 ITGAM Zornitza Stark gene: ITGAM was added
gene: ITGAM was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: ITGAM was set to Unknown
Complement Deficiencies v0.0 FCN3 Zornitza Stark gene: FCN3 was added
gene: FCN3 was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: FCN3 was set to Unknown
Complement Deficiencies v0.0 CFP Zornitza Stark gene: CFP was added
gene: CFP was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CFP was set to Unknown
Complement Deficiencies v0.0 CFI Zornitza Stark gene: CFI was added
gene: CFI was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CFI was set to Unknown
Complement Deficiencies v0.0 CFHR5 Zornitza Stark gene: CFHR5 was added
gene: CFHR5 was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CFHR5 was set to Unknown
Complement Deficiencies v0.0 CFHR4 Zornitza Stark gene: CFHR4 was added
gene: CFHR4 was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CFHR4 was set to Unknown
Complement Deficiencies v0.0 CFHR3 Zornitza Stark gene: CFHR3 was added
gene: CFHR3 was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CFHR3 was set to Unknown
Complement Deficiencies v0.0 CFHR2 Zornitza Stark gene: CFHR2 was added
gene: CFHR2 was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CFHR2 was set to Unknown
Complement Deficiencies v0.0 CFHR1 Zornitza Stark gene: CFHR1 was added
gene: CFHR1 was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CFHR1 was set to Unknown
Complement Deficiencies v0.0 CFH Zornitza Stark gene: CFH was added
gene: CFH was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CFH was set to Unknown
Complement Deficiencies v0.0 CFD Zornitza Stark gene: CFD was added
gene: CFD was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CFD was set to Unknown
Complement Deficiencies v0.0 CFB Zornitza Stark gene: CFB was added
gene: CFB was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CFB was set to Unknown
Complement Deficiencies v0.0 CD59 Zornitza Stark gene: CD59 was added
gene: CD59 was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CD59 was set to Unknown
Complement Deficiencies v0.0 CD46 Zornitza Stark gene: CD46 was added
gene: CD46 was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CD46 was set to Unknown
Complement Deficiencies v0.0 C9 Zornitza Stark gene: C9 was added
gene: C9 was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: C9 was set to Unknown
Complement Deficiencies v0.0 C8G Zornitza Stark gene: C8G was added
gene: C8G was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: C8G was set to Unknown
Complement Deficiencies v0.0 C8B Zornitza Stark gene: C8B was added
gene: C8B was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: C8B was set to Unknown
Complement Deficiencies v0.0 C8A Zornitza Stark gene: C8A was added
gene: C8A was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: C8A was set to Unknown
Complement Deficiencies v0.0 C7 Zornitza Stark gene: C7 was added
gene: C7 was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: C7 was set to Unknown
Complement Deficiencies v0.0 C6 Zornitza Stark gene: C6 was added
gene: C6 was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: C6 was set to Unknown
Complement Deficiencies v0.0 C5 Zornitza Stark gene: C5 was added
gene: C5 was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: C5 was set to Unknown
Complement Deficiencies v0.0 C4B Zornitza Stark gene: C4B was added
gene: C4B was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: C4B was set to Unknown
Complement Deficiencies v0.0 C4A Zornitza Stark gene: C4A was added
gene: C4A was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: C4A was set to Unknown
Complement Deficiencies v0.0 C3 Zornitza Stark gene: C3 was added
gene: C3 was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: C3 was set to Unknown
Complement Deficiencies v0.0 C2 Zornitza Stark gene: C2 was added
gene: C2 was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: C2 was set to Unknown
Complement Deficiencies v0.0 C1S Zornitza Stark gene: C1S was added
gene: C1S was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: C1S was set to Unknown
Complement Deficiencies v0.0 C1R Zornitza Stark gene: C1R was added
gene: C1R was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: C1R was set to Unknown
Complement Deficiencies v0.0 C1QC Zornitza Stark gene: C1QC was added
gene: C1QC was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: C1QC was set to Unknown
Complement Deficiencies v0.0 C1QB Zornitza Stark gene: C1QB was added
gene: C1QB was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: C1QB was set to Unknown
Complement Deficiencies v0.0 C1QA Zornitza Stark gene: C1QA was added
gene: C1QA was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: C1QA was set to Unknown
Complement Deficiencies v0.0 Zornitza Stark Added panel Complement deficiencies_MGHA_AGHA_VCGS