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Mendeliome v0.11674 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
Mendeliome v0.11674 C4B Ain Roesley edited their review of gene: C4B: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11674 C4B Ain Roesley Marked gene: C4B as ready
Mendeliome v0.11674 C4B Ain Roesley Gene: c4b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11674 C4B Zornitza Stark Marked gene: C4B as ready
Mendeliome v0.11674 C4B Zornitza Stark Gene: c4b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11674 C4B Ain Roesley Phenotypes for gene: C4B were changed from susceptibility to autoimmune disease; C4B deficiency MIM#614379 to susceptibility to autoimmune disease; C4B deficiency MIM#614379
Mendeliome v0.11674 C4B Zornitza Stark Phenotypes for gene: C4B were changed from to susceptibility to autoimmune disease; C4B deficiency MIM#614379
Mendeliome v0.11673 C4B Zornitza Stark Publications for gene: C4B were set to 34764957; 12626442; 22387014; 17503323; 32048120
Mendeliome v0.11672 C4B Ain Roesley Publications for gene: C4B were set to
Mendeliome v0.11671 C4B Ain Roesley Mode of inheritance for gene: C4B was changed from Other to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11670 C4B Zornitza Stark Mode of inheritance for gene: C4B was changed from Unknown to Other
Mendeliome v0.11669 C4B Ain Roesley Classified gene: C4B as Amber List (moderate evidence)
Mendeliome v0.11669 C4B Ain Roesley Gene: c4b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11668 C4B Ain Roesley Tag SV/CNV tag was added to gene: C4B.
Mendeliome v0.11668 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 C4A alone leads to partial deficiency
Mendeliome v0.11668 C4B Ain Roesley edited their review of gene: C4B: Changed rating: AMBER; Changed publications: 34764957, 12626442, 22387014, 17503323, 32048120
Mendeliome v0.11649 C4B Ain Roesley edited their review of gene: C4B: Changed phenotypes: susceptibility to autoimmune disease, C4B deficiency MIM#614379
Mendeliome v0.11649 C4B Ain Roesley reviewed gene: C4B: Rating: RED; Mode of pathogenicity: None; Publications: 34764957, 12626442, 22387014, 17503323; Phenotypes: susceptibility to autoimmune disease; Mode of inheritance: Other; Current diagnostic: yes
Mendeliome v0.0 C4B Zornitza Stark gene: C4B was added
gene: C4B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C4B was set to Unknown