Skeletal dysplasia
Gene: ANTXR2
Listed in Genetic inflammatory/rheumatoid-like osteoarthropathies gp of SD. AR. At least 3 unrelated cases reported. Additional features include gingival hypertrophy, progressive joint contractures resulting in severe limitation of mobility, osteopenia, and osteoporosis.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyaline fibromatosis syndrome 228600
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: ANTXR2; Initial rating suggestion: green if SDCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM. Numerous variants reportedCreated: 27 Jul 2016, 1:07 p.m.
Tier 2Created: 17 Jun 2016, 8:01 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyaline fibromatosis syndrome 228600
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Hyaline fibromatosis syndrome 228600 for gene: ANTXR2
Source NHS GMS was added to ANTXR2. 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 ANTXR2 were set to Hyaline fibromatosis syndrome 228600
Mode of inheritance for ANTXR2 was changed to BIALLELIC, autosomal or pseudoautosomal
ANTXR2 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
ANTXR2 was added to Unexplained skeletal dysplasiapanel. Sources:
ANTXR2 was created by sleigh