PRSS56 Chromosome 2
Serine protease 56
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What This Gene Does
This gene encodes a protein that contains a peptidase S1 domain and possesses trypsin-like serine protease activity. The encoded protein may play a role in eye development, and mutations in this gene are a cause of autosomal recessive posterior microphthalmos. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
Serine proteases
Locus Type
gene with protein product
Location
2q37.1
Ensembl
ENSG00000237412
Associated Conditions (4)
Isolated microphthalmia 6
Inborn genetic diseases
Nanophthalmia
PRSS56-related disorder
Key Variants
RS1025103437
Conflicting classifications of pathogenicity
Isolated microphthalmia 6, Isolated microphthalmia 6
Health Risk
RS566840716
Conflicting classifications of pathogenicity
Isolated microphthalmia 6, Inborn genetic diseases, Isolated microphthalmia 6
Health Risk
RS776684546
Conflicting classifications of pathogenicity
Inborn genetic diseases, Isolated microphthalmia 6, Inborn genetic diseases
Health Risk
RS1691258244
Likely pathogenic
Isolated microphthalmia 6, Isolated microphthalmia 6
Health Risk
RS730882158
Likely pathogenic
Isolated microphthalmia 6, Isolated microphthalmia 6
Health Risk
RS730882162
Likely pathogenic
Isolated microphthalmia 6, Isolated microphthalmia 6
Health Risk
RS1041798789
Pathogenic
Isolated microphthalmia 6, Isolated microphthalmia 6
Health Risk
RS1218404300
Pathogenic
Isolated microphthalmia 6, Isolated microphthalmia 6
Health Risk
RS1418002054
Pathogenic
Isolated microphthalmia 6, Isolated microphthalmia 6
Health Risk
RS1430615320
Pathogenic
Isolated microphthalmia 6, Isolated microphthalmia 6
Health Risk
RS2469701504
Pathogenic
Isolated microphthalmia 6, Isolated microphthalmia 6
Health Risk
RS387907095
Pathogenic
Isolated microphthalmia 6, Isolated microphthalmia 6
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1025103437 | Health Risk | Conflicting classifications of pathogenicity | Isolated microphthalmia 6, Isolated microphthalmia 6 |
| RS566840716 | Health Risk | Conflicting classifications of pathogenicity | Isolated microphthalmia 6, Inborn genetic diseases, Isolated microphthalmia 6 |
| RS776684546 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Isolated microphthalmia 6, Inborn genetic diseases |
| RS1691258244 | Health Risk | Likely pathogenic | Isolated microphthalmia 6, Isolated microphthalmia 6 |
| RS730882158 | Health Risk | Likely pathogenic | Isolated microphthalmia 6, Isolated microphthalmia 6 |
| RS730882162 | Health Risk | Likely pathogenic | Isolated microphthalmia 6, Isolated microphthalmia 6 |
| RS1041798789 | Health Risk | Pathogenic | Isolated microphthalmia 6, Isolated microphthalmia 6 |
| RS1218404300 | Health Risk | Pathogenic | Isolated microphthalmia 6, Isolated microphthalmia 6 |
| RS1418002054 | Health Risk | Pathogenic | Isolated microphthalmia 6, Isolated microphthalmia 6 |
| RS1430615320 | Health Risk | Pathogenic | Isolated microphthalmia 6, Isolated microphthalmia 6 |
| RS2469701504 | Health Risk | Pathogenic | Isolated microphthalmia 6, Isolated microphthalmia 6 |
| RS387907095 | Health Risk | Pathogenic | Isolated microphthalmia 6, Isolated microphthalmia 6 |
| RS387907096 | Health Risk | Pathogenic | Isolated microphthalmia 6, Isolated microphthalmia 6 |
| RS730882064 | Health Risk | Pathogenic | Isolated microphthalmia 6, Nanophthalmia, PRSS56-related disorder |
| RS730882159 | Health Risk | Pathogenic | Isolated microphthalmia 6, Isolated microphthalmia 6 |
| RS730882160 | Health Risk | Pathogenic | Isolated microphthalmia 6, Isolated microphthalmia 6 |
| RS730882161 | Health Risk | Pathogenic | Isolated microphthalmia 6, Isolated microphthalmia 6 |
| RS780960251 | Health Risk | Pathogenic | Isolated microphthalmia 6, Isolated microphthalmia 6 |