POC1A Chromosome 3
POC1 centriolar protein A
Upload your DNA to see your personal genotypes for variants in POC1A.
What This Gene Does
POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutations in this gene result in short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) syndrome. [provided by RefSeq, Sep 2012]
Gene Info
Gene Group
WD repeat domain containing
Locus Type
gene with protein product
Location
3p21.2
Ensembl
ENSG00000164087
Associated Conditions (7)
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
POC1A-related disorder
Inborn genetic diseases
Cervical cancer
See cases
POC1A-related syndrome
Ateleiotic dwarfism
Key Variants
RS112213336
Conflicting classifications of pathogenicity
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Health Risk
RS139147068
Conflicting classifications of pathogenicity
POC1A-related disorder, POC1A-related disorder
Health Risk
RS141061033
Conflicting classifications of pathogenicity
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, Inborn genetic diseases, Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Health Risk
RS146976547
Conflicting classifications of pathogenicity
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, Inborn genetic diseases, Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Health Risk
RS35249554
Conflicting classifications of pathogenicity
Health Risk
RS370528660
Conflicting classifications of pathogenicity
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, Inborn genetic diseases, Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Health Risk
RS377711159
Conflicting classifications of pathogenicity
Health Risk
RS562051715
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS762363654
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146848374
Likely pathogenic
Cervical cancer, Cervical cancer
Health Risk
RS2107090748
Likely pathogenic
See cases, POC1A-related disorder, Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Health Risk
RS2470849136
Likely pathogenic
Health Risk
All Variants (30)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112213336 | Health Risk | Conflicting classifications of pathogenicity | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome |
| RS139147068 | Health Risk | Conflicting classifications of pathogenicity | POC1A-related disorder, POC1A-related disorder |
| RS141061033 | Health Risk | Conflicting classifications of pathogenicity | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, Inborn genetic diseases, Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome |
| RS146976547 | Health Risk | Conflicting classifications of pathogenicity | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, Inborn genetic diseases, Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome |
| RS35249554 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS370528660 | Health Risk | Conflicting classifications of pathogenicity | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, Inborn genetic diseases, Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome |
| RS377711159 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS562051715 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS762363654 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS146848374 | Health Risk | Likely pathogenic | Cervical cancer, Cervical cancer |
| RS2107090748 | Health Risk | Likely pathogenic | See cases, POC1A-related disorder, Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome |
| RS2470849136 | Health Risk | Likely pathogenic | — |
| RS2470912237 | Health Risk | Likely pathogenic | — |
| RS778252554 | Health Risk | Likely pathogenic | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome |
| RS866964603 | Health Risk | Likely pathogenic | — |
| RS918352190 | Health Risk | Likely pathogenic | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome |
| RS1488104140 | Health Risk | Pathogenic | — |
| RS1698348226 | Health Risk | Pathogenic | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome |
| RS1703818635 | Health Risk | Pathogenic | POC1A-related syndrome, POC1A-related syndrome |
| RS2107189610 | Health Risk | Pathogenic | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome |
| RS2470918494 | Health Risk | Pathogenic | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome |
| RS397514487 | Health Risk | Pathogenic | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, Ateleiotic dwarfism, Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome |
| RS397514488 | Health Risk | Pathogenic | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome |
| RS763709592 | Health Risk | Pathogenic | POC1A-related syndrome, POC1A-related syndrome |
| RS770990008 | Health Risk | Pathogenic | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome |
| RS772586602 | Health Risk | Pathogenic | — |
| RS780164701 | Health Risk | Pathogenic | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome |
| RS1203995886 | Health Risk | Pathogenic/Likely pathogenic | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome |
| RS372247136 | Health Risk | Pathogenic/Likely pathogenic | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome |
| RS747094191 | Health Risk | Pathogenic/Likely pathogenic | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome |