Skeletal dysplasia
Gene: MEOX1
Dysostoses with predominant vertebral with and without costal involvement gp of SD - at least 3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Klippel-Feil syndrome 2 214300
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: MEOX1; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least three variants reportedCreated: 29 Jul 2016, 7:28 a.m.
Tier 2Created: 17 Jun 2016, 8:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Klippel-Feil syndrome 2 214300
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Klippel-Feil syndrome 2 214300 for gene: MEOX1
Source NHS GMS was added to MEOX1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for MEOX1 were set to Klippel-Feil syndrome 2 214300
Mode of inheritance for MEOX1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
MEOX1 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen
MEOX1 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen
MEOX1 was added to Unexplained skeletal dysplasiapanel. Sources:
MEOX1 was created by sleigh