Skeletal dysplasia
Gene: ACP5
Spondyloenchondrodysplasia. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. Spondylometaphyseal dysplasias gp of SD. Green. SD mentioned. AR; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondyloenchondrodysplasia with immune dysregulation 607944
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: ACP5; 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, 7:28 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 12:26 p.m.
Tier 1Created: 15 Jun 2016, 2:01 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondyloenchondrodysplasia with immune dysregulation 607944
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Spondyloenchondrodysplasia with immune dysregulation 607944 for gene: ACP5
Source NHS GMS was added to ACP5. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for ACP5 were set to Spondyloenchondrodysplasia with immune dysregulation 607944
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
ACP5 was created by sleigh
ACP5 was added to Unexplained skeletal dysplasiapanel. Sources: