CPAMD8 Chromosome 19
C3 and PZP like alpha-2-macroglobulin domain containing 8
Upload your DNA to see your personal genotypes for variants in CPAMD8.
What This Gene Does
This gene encodes a member of the protease inhibitor I39 (alpha-2-macroglobulin) family of proteins. These proteins are important in innate and acquired immunity. The encoded protein is membrane-associated and proteolytically processed to generate two chains. Mutations in this gene cause a form of anterior segment dysgenesis, a developmental disorder of the eye. [provided by RefSeq, May 2017]
Gene Info
Gene Group
C3 and PZP like, alpha-2-macroglobulin domain containing
Locus Type
gene with protein product
Location
19p13.11
Ensembl
ENSG00000160111
Associated Conditions (6)
Anterior segment dysgenesis 8
Inborn genetic diseases
CPAMD8-related disorder
Anterior segment dysgenesis
Abnormal anterior eye segment morphology
Familial cancer of breast
Key Variants
RS147345591
Conflicting classifications of pathogenicity
Anterior segment dysgenesis 8, Inborn genetic diseases, Anterior segment dysgenesis 8
Health Risk
RS148129755
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS185510059
Conflicting classifications of pathogenicity
Health Risk
RS186098031
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS191566965
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200705564
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201613702
Conflicting classifications of pathogenicity
CPAMD8-related disorder, Inborn genetic diseases, CPAMD8-related disorder
Health Risk
RS377525832
Conflicting classifications of pathogenicity
Anterior segment dysgenesis 8, Inborn genetic diseases, Anterior segment dysgenesis 8
Health Risk
RS1312765862
Likely pathogenic
Anterior segment dysgenesis 8, Anterior segment dysgenesis 8
Health Risk
RS199728419
Likely pathogenic
Anterior segment dysgenesis, Anterior segment dysgenesis
Health Risk
RS201809454
Likely pathogenic
Anterior segment dysgenesis 8, Anterior segment dysgenesis 8
Health Risk
RS2512740601
Likely pathogenic
CPAMD8-related disorder, CPAMD8-related disorder
Health Risk
All Variants (26)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147345591 | Health Risk | Conflicting classifications of pathogenicity | Anterior segment dysgenesis 8, Inborn genetic diseases, Anterior segment dysgenesis 8 |
| RS148129755 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS185510059 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS186098031 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS191566965 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200705564 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201613702 | Health Risk | Conflicting classifications of pathogenicity | CPAMD8-related disorder, Inborn genetic diseases, CPAMD8-related disorder |
| RS377525832 | Health Risk | Conflicting classifications of pathogenicity | Anterior segment dysgenesis 8, Inborn genetic diseases, Anterior segment dysgenesis 8 |
| RS1312765862 | Health Risk | Likely pathogenic | Anterior segment dysgenesis 8, Anterior segment dysgenesis 8 |
| RS199728419 | Health Risk | Likely pathogenic | Anterior segment dysgenesis, Anterior segment dysgenesis |
| RS201809454 | Health Risk | Likely pathogenic | Anterior segment dysgenesis 8, Anterior segment dysgenesis 8 |
| RS2512740601 | Health Risk | Likely pathogenic | CPAMD8-related disorder, CPAMD8-related disorder |
| RS2513247583 | Health Risk | Likely pathogenic | Abnormal anterior eye segment morphology, Abnormal anterior eye segment morphology |
| RS374939930 | Health Risk | Likely pathogenic | Anterior segment dysgenesis 8, Familial cancer of breast, Anterior segment dysgenesis 8 |
| RS376136046 | Health Risk | Likely pathogenic | Anterior segment dysgenesis 8, Anterior segment dysgenesis 8 |
| RS577740063 | Health Risk | Likely pathogenic | Anterior segment dysgenesis 8, Anterior segment dysgenesis 8 |
| RS753438460 | Health Risk | Likely pathogenic | Anterior segment dysgenesis 8, Anterior segment dysgenesis 8 |
| RS774658933 | Health Risk | Likely pathogenic | CPAMD8-related disorder, CPAMD8-related disorder |
| RS1057519340 | Health Risk | Pathogenic | Anterior segment dysgenesis 8, Anterior segment dysgenesis 8 |
| RS200025505 | Health Risk | Pathogenic | — |
| RS368338696 | Health Risk | Pathogenic | — |
| RS369858688 | Health Risk | Pathogenic | Anterior segment dysgenesis 8, Anterior segment dysgenesis, Anterior segment dysgenesis 8 |
| RS756064750 | Health Risk | Pathogenic | Anterior segment dysgenesis 8, Anterior segment dysgenesis 8 |
| RS766279277 | Health Risk | Pathogenic | — |
| RS770761082 | Health Risk | Pathogenic | — |
| RS772486886 | Health Risk | Pathogenic | — |