TMCO1 Chromosome 1
Transmembrane and coiled-coil domains 1
Upload your DNA to see your personal genotypes for variants in TMCO1.
What This Gene Does
This locus encodes a transmembrane protein. Mutations at this locus have been associated with craniofacial dysmorphism, skeletal anomalies, and cognitive disability. Mutations at this locus have also been associated with open angle glaucoma blindness. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]
Gene Info
Gene Group
GEL complex subunits
Locus Type
gene with protein product
Location
1q24.1
Ensembl
ENSG00000143183
Associated Conditions (6)
Craniofacial dysmorphism
skeletal anomalies
and impaired intellectual development 1
Inborn genetic diseases
TMCO1-related disorder
Cerebro-facio-thoracic dysplasia
Key Variants
RS1197771764
Likely pathogenic
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
Health Risk
RS1558027212
Likely pathogenic
Health Risk
RS777163859
Likely pathogenic
Health Risk
RS929157192
Likely pathogenic
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
Health Risk
RS1247427997
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1553249737
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201213306
Pathogenic
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
Health Risk
RS372701032
Pathogenic
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
Health Risk
RS765824628
Pathogenic
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
Health Risk
RS786204789
Pathogenic
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
Health Risk
RS752176040
Pathogenic/Likely pathogenic
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
Health Risk
RS765379963
Pathogenic/Likely pathogenic
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1197771764 | Health Risk | Likely pathogenic | Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 |
| RS1558027212 | Health Risk | Likely pathogenic | — |
| RS777163859 | Health Risk | Likely pathogenic | — |
| RS929157192 | Health Risk | Likely pathogenic | Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 |
| RS1247427997 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1553249737 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS201213306 | Health Risk | Pathogenic | Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 |
| RS372701032 | Health Risk | Pathogenic | Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 |
| RS765824628 | Health Risk | Pathogenic | Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 |
| RS786204789 | Health Risk | Pathogenic | Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 |
| RS752176040 | Health Risk | Pathogenic/Likely pathogenic | Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 |
| RS765379963 | Health Risk | Pathogenic/Likely pathogenic | Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 |