Brain Calcification
Gene: ACP5

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

2 reviews

Yetong Chen (University of Melbourne)

Green List (high evidence)

PMID 21217755 reports 4 unrelated individuals with ACP5 variants who developed intracranial calcification.
PMID 21217752 reports 4 individuals with ACP5 variants who developed brain calcification.
Created: 27 Mar 2023, 9:57 a.m. | Last Modified: 27 Mar 2023, 9:57 a.m.

Panel Version: 1.22

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondyloenchondrodysplasia with immune dysregulation; SPENCDI

Publications

Created: 27 Mar 2023, 9:57 a.m.
Last Modified: 27 Mar 2023, 9:57 a.m.
Panel version: 1.22

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Established gene-disease association, intracranial calcification is part of the phenotype.
Sources: Expert list
Created: 24 Jul 2020, 8:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondyloenchondrodysplasia with immune dysregulation, MIM# 607944

Publications

Created: 24 Jul 2020, 8:32 a.m.

Panel version: 1.22

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list

Phenotypes

Spondyloenchondrodysplasia with immune dysregulation, MIM# 607944

OMIM

171640

Clinvar variants

Variants in ACP5

Penetrance

None

Publications

Panels with this gene