Mandibulofacial Acrofacial dysostosis
Gene: TMCO1

TMCO1 (transmembrane and coiled-coil domains 1)
EnsemblGeneIds (GRCh38): ENSG00000143183
EnsemblGeneIds (GRCh37): ENSG00000143183
OMIM: 614123, Gene2Phenotype
TMCO1 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Clinical features include severe intellectual disability, as well as distinctive craniofacial features, including brachycephaly, synophrys, arched eyebrows, "cupid's bow" upper lip, and microdontia. In addition, nonspecific skeletal anomalies are common, including bifid ribs, scoliosis, and spinal fusion.

More than 20 individuals reported. c.292_293del (p.Ser98*) variant has been identified in multiple individuals from different ethnicities.
Created: 7 Aug 2021, 7:49 a.m. | Last Modified: 7 Aug 2021, 7:49 a.m.

Panel Version: 0.59

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, MIM# 213980

Publications

Created: 7 Aug 2021, 7:49 a.m.
Last Modified: 7 Aug 2021, 7:49 a.m.
Panel version: 0.59

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, MIM# 213980

OMIM

614123

Clinvar variants

Variants in TMCO1

Penetrance

None

Publications

Panels with this gene