Gene: TMCO1

Alternate names for this Gene: HP10122|PCIA3|PNAS-136|TMCC4

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q24.1

Description of this Gene: transmembrane and coiled-coil domains 1

Type of Gene: protein-coding

rs372701032 in TMCO1 gene and Cerebrofaciothoracic Dysplasia PMID 24424126 2014 Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.

rs1247427997 in TMCO1 gene and Dysmorphic features PMID 24194475 2014 TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.

PMID 20018682 2010 Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.

PMID 24424126 2014 Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.

PMID 23320496 2013 Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum.

rs10918274 in TMCO1 gene and Glaucoma PMID 30054594 2018 Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma.

rs7524755 in TMCO1 gene and Glaucoma, Open-Angle PMID 29891935 2018 A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci.

PMID 26752265 2016 Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma.

rs1247427997 in TMCO1 gene and Multiple congenital anomalies PMID 20018682 2010 Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.

PMID 23320496 2013 Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum.

PMID 24424126 2014 Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.

PMID 24194475 2014 TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.

rs1247427997 in TMCO1 gene and Muscle hypotonia PMID 24424126 2014 Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.

PMID 20018682 2010 Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.

PMID 24194475 2014 TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.

PMID 23320496 2013 Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum.

rs1247427997 in TMCO1 gene and Overgrowth PMID 20018682 2010 Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.

PMID 24194475 2014 TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.

PMID 24424126 2014 Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.

PMID 23320496 2013 Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum.

rs7555523 in TMCO1 gene and Physiologic Intraocular Pressure PMID 22570627 2012 Common genetic determinants of intraocular pressure and primary open-angle glaucoma.

rs10918274 in TMCO1 gene and Tonometry PMID 29785010 2018 Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.

PMID 30054594 2018 Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma.

PMID 28073927 2017 New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics.

PMID 29617998 2018 Genome-wide association analyses identify new loci influencing intraocular pressure.

PMID 30894546 2019 Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density.

PMID 22570627 2012 Common genetic determinants of intraocular pressure and primary open-angle glaucoma.

PMID 25173106 2014 Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.

PMID 29235454 2017 A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure.