PanelApp

Activity

Filter

Cancel
Date Panel Item Activity
20 actions
Complement Deficiencies v2.0 C4B Gene migrated from ENSG00000224389 to ENSG00000224389 (gene set migration)
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 v0.64 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 v0.49 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 v0.36 C4B Bryony Thompson Tag for review tag was added to gene: C4B.
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