Complement Deficiencies
Gene: C5
>5 families reported with C5 deficiency which is associated with recurrent infectious episodes, generally caused by Gram-negative micro-organismsCreated: 21 Jul 2022, 2:38 a.m. | Last Modified: 21 Jul 2022, 2:38 a.m.
Panel Version: 0.72
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
C5 deficiency (MIM#609536)
Publications
>5 familiesCreated: 21 Mar 2022, 12:24 a.m. | Last Modified: 21 Mar 2022, 12:24 a.m.
Panel Version: 0.49
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
C5 deficiency MIM#609536
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: C5 were changed from C5 deficiency MIM#609536 to C5 deficiency MIM#609536
Mode of inheritance for gene: C5 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C5 were set to 23743184; 15488949; 15778377; 23371790
Publications for gene: C5 were set to
Phenotypes for gene: C5 were changed from to C5 deficiency MIM#609536
Mode of inheritance for gene: C5 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mode of pathogenicity for gene: C5 was changed from to None
Mode of inheritance for gene: C5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: c5 has been classified as Green List (High Evidence).
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