Skeletal dysplasia
Gene: TMCO1
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 OldridgeCreated: 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
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: greenCreated: 6 Mar 2019, 11:37 a.m.
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.
Tier 2Created: 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
Added phenotypes Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980 for gene: TMCO1
Source NHS GMS was added to TMCO1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Publications for TMCO1 were set to 24424126
Phenotypes for TMCO1 were set to Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980
Mode of inheritance for TMCO1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
TMCO1 was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen
TMCO1 was added to Unexplained skeletal dysplasiapanel. Sources:
TMCO1 was created by sleigh