Skeletal dysplasia
Gene: ACP5

ACP5 (acid phosphatase 5, tartrate resistant)
EnsemblGeneIds (GRCh38): ENSG00000102575
EnsemblGeneIds (GRCh37): ENSG00000102575
OMIM: 171640, Gene2Phenotype
ACP5 is in 8 panels

1 review

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency.

Multiple reports in literature. Well established disease gene.
Created: 27 Jan 2022, 12:39 a.m. | Last Modified: 27 Jan 2022, 12:39 a.m.

Panel Version: 0.10795

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
spondyloenchondrodysplasia with immune dysregulation, OMIM# 607944

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 27 Jan 2022, 12:39 a.m.
Last Modified: 27 Jan 2022, 12:39 a.m.
Panel version: Imported from Mendeliome panel version 0.10795

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
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

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ACP5 was added gene: ACP5 was added to 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

Skeletal dysplasia Gene: ACP5