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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 v0.66 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 v0.62 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 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 v0.36 C4A Bryony Thompson Tag for review tag was added to gene: C4A.
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