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Inherited complement deficiency

Gene: C2

Red List (low evidence)

C2 (complement C2)
EnsemblGeneIds (GRCh38): ENSG00000166278
EnsemblGeneIds (GRCh37): ENSG00000166278
OMIM: 613927, Gene2Phenotype
C2 is in 7 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Complement Component C2 Deficiency
OMIM
613927
Clinvar variants
Variants in C2
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

C2 was added to Inherited complement deficiencypanel. Sources: Illumina TruGenome Clinical Sequencing Services

29 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

C2 was created by ellenmcdonagh