Skeletal dysplasia
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, 7:51 a.m. | Last Modified: 7 Aug 2021, 7:51 a.m.

Panel Version: 0.8672

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 7 Aug 2021, 7:51 a.m.
Last Modified: 7 Aug 2021, 7:51 a.m.
Panel version: Imported from Mendeliome panel version 0.8672

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review Green
Radboud University Medical Center, Nijmegen
NHS GMS
Victorian Clinical Genetics Services

Phenotypes

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

OMIM

614123

Clinvar variants

Variants in TMCO1

Penetrance

None

Publications

24424126

Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TMCO1 was added gene: TMCO1 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green Mode of inheritance for gene: TMCO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMCO1 were set to 24424126 Phenotypes for gene: TMCO1 were set to Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980; Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980

Skeletal dysplasia Gene: TMCO1