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Mendeliome v1.2745 C4BPA Zornitza Stark Marked gene: C4BPA as ready
Mendeliome v1.2745 C4BPA Zornitza Stark Gene: c4bpa has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2745 C4BPA Zornitza Stark Classified gene: C4BPA as Amber List (moderate evidence)
Mendeliome v1.2745 C4BPA Zornitza Stark Gene: c4bpa has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2744 C4BPA Zornitza Stark gene: C4BPA was added
gene: C4BPA was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: C4BPA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: C4BPA were set to 23508668
Phenotypes for gene: C4BPA were set to recurrent pregnancy loss susceptibility MONDO:0000144, C4BPA-related
Review for gene: C4BPA was set to AMBER
Added comment: PMID: 23508668- Five unrelated female with history of recurrent RPL (<10 weeks) carrying het missnese variants (See table 3- G423E, R120H, I126T, P4Q).
- The I126T mutation in CCP2 of C4BP α-chain is of particular interest as it was found only in one patient but not in healthy controls. This rare mutation affected both expression level of C4BP α-chain as well as its function, i.e., degradation of C4b and C3b in solution.
R120H, found in two patients and no controls, increased the ability of C4BP to act as cofactor in degradation of C4b but decreased its activity in degradation of C3b both in solution and deposited on the cell surface. The other 2 variants have been observed in controls.
- Homozygous C4BP knockout mice often die during second or third pregnancy (unpublished observation). This would imply a pivotal role of this protein in maintenance of successful pregnancy, although the mechanism is not known.
Sources: Expert list
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