rs1652676730
This variant is located in the TMCO1 gene.
▶ClinVar annotation
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
View on ClinVar →▶Research that mentions this SNP (1)
▶Cerebrofaciothoracic dysplasia: Four new patients with a recurrent TMCO1 pathogenic variantCase reportN=4Thabo Michael Yates et al.(2019)· American Journal of Medical Genetics Part A
A case report describing four patients with Cerebrofaciothoracic Dysplasia (CFTD) due to biallelic loss-of-function mutations in TMCO1. All patients were homozygous for c.292_293del p.(Ser98*), a recurrent variant previously reported only in an Amish population. Clinical features include severe intellectual disability, distinctive craniofacial dysmorphism (synophrys, arched eyebrows, cupid's bow upper lip, low-set ears in 100% of cases), and skeletal abnormalities including rib and vertebral anomalies (77% and 70% respectively in combined series). The report expands the phenotypic and ethnic spectrum of TMCO1-related CFTD.
About TMCO1
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]
View all TMCO1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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