Skeletal dysplasia
Gene: TMCO1

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

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high 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, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

24424126

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.152

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: TMCO1; Initial rating suggestion: green
Created: 6 Mar 2019, 11:37 a.m.

Created: 6 Mar 2019, 11:37 a.m.

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)
Created: 21 Jun 2016, 1:13 p.m.

Created: 21 Jun 2016, 1:13 p.m.

Panel version: 0.87

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jun 2016, 8:09 a.m.

Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
Radboud University Medical Center, Nijmegen

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

Complete

Publications

24424126

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980 for gene: TMCO1

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to TMCO1. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4