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  2. GMS Musculoskeletal specialist test group Skeletal dysplasia
  3. TMCO1
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GMS Musculoskeletal specialist test group Skeletal dysplasia

Gene: TMCO1

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

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

green - 4 mutations on HGMD. Not in Bonafe et al (2015) AJMG 167A:28692892. Nosology and Classification of Genetic Skeletal Disorders: 2015 Revision -clinical features include craniofacial dysmorphism and skeletal anomalies; Review on behalf of Tracy Lester/Michael Oldridge
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980
OMIM
614123
Clinvar variants
Variants in TMCO1
Penetrance
None
Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: TMCO1 was added gene: TMCO1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: TMCO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMCO1 were set to Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980