Skeletal dysplasia
Gene: NKX3-2
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
Spondylo-megaepiphyseal-metaphyseal dysplasia 613330
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: NKX3-2; 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, 8:30 a.m.
Tier 1Created: 17 Jun 2016, 8:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondylo-megaepiphyseal-metaphyseal dysplasia 613330
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Spondylo-megaepiphyseal-metaphyseal dysplasia 613330 for gene: NKX3-2
Source NHS GMS was added to NKX3-2. 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 NKX3-2 were set to Spondylo-megaepiphyseal-metaphyseal dysplasia 613330
Mode of inheritance for NKX3-2 was changed to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for NKX3-2 was changed to BIALLELIC, autosomal or pseudoautosomal
NKX3-2 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,UKGTN
NKX3-2 was added to Unexplained skeletal dysplasiapanel. Sources:
NKX3-2 was created by sleigh