GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: ACP5

ACP5 (acid phosphatase 5, tartrate resistant)
EnsemblGeneIds (GRCh38): ENSG00000102575
EnsemblGeneIds (GRCh37): ENSG00000102575
OMIM: 171640, Gene2Phenotype
ACP5 is in 9 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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 Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondyloenchondrodysplasia with immune dysregulation 607944

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Spondyloenchondrodysplasia with immune dysregulation 607944

OMIM

171640

Clinvar variants

Variants in ACP5

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: ACP5 was added gene: ACP5 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ACP5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACP5 were set to Spondyloenchondrodysplasia with immune dysregulation 607944

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: ACP5