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  3. ACP5
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Fetal anomalies

Gene: ACP5

Green List (high evidence)
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.

Skeletal findings likely to be seen in fetal period
Created: 27 Jan 2022, 12:41 a.m. | Last Modified: 27 Jan 2022, 12:41 a.m.
Panel Version: 0.2823

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, 12:41 a.m.
Last Modified: 27 Jan 2022, 12:41 a.m.
Panel version: 0.2823

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Spondyloenchondrodysplasia with immune dysregulation, OMIM# 607944
OMIM
171640
Clinvar variants
Variants in ACP5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ACP5 were set to

27 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: acp5 has been classified as Green List (High Evidence).

27 Jan 2022, Gel status: 3

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

Phenotypes for gene: ACP5 were changed from SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION to Spondyloenchondrodysplasia with immune dysregulation, OMIM# 607944

24 Oct 2021, 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 Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ACP5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACP5 were set to SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION