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Intellectual_disability

Gene: TMCO1

Red List (low evidence)

TMCO1 (transmembrane and coiled-coil domains 1)
EnsemblGeneIds (GRCh38): ENSG00000143183
EnsemblGeneIds (GRCh37): ENSG00000143183
OMIM: 614123, Gene2Phenotype
TMCO1 is in 7 panels

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Details

Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 614132
OMIM
614123
Clinvar variants
Variants in TMCO1
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TMCO1 was added to Intellectual_disabilitypanel. Sources: Radboud University Medical Center, Nijmegen