Skeletal dysplasia
Gene: BMPER
AR. Listed in Dysostoses with predominant vertebral with and without costal involvement gp of SD. Several cases reported.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Diaphanospondylodysostosis 608022
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: BMPER; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 13 Jul 2016, 7:47 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 12:30 p.m.
Tier 1Created: 17 Jun 2016, 8:02 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Diaphanospondylodysostosis 608022
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Diaphanospondylodysostosis 608022 for gene: BMPER
Source NHS GMS was added to BMPER. 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 BMPER were set to Diaphanospondylodysostosis 608022
Mode of inheritance for BMPER was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
BMPER was added to Unexplained skeletal dysplasiapanel. Sources:
BMPER was created by sleigh