White matter disorders and cerebral calcification - narrow panel
Gene: ACP5

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

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Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Spondyloenchondrodysplasia, short stature, SLE, intracranial calcification, spasticity, chilblains, autoimmune haemolytic anaemia
Spondyloenchondrodysplasia with immune dysregulation

OMIM

171640

Clinvar variants

Variants in ACP5

Penetrance

None

Publications

Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

19 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: ACP5 was added gene: ACP5 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ACP5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACP5 were set to 21217752; 21217755; 26951490 Phenotypes for gene: ACP5 were set to Spondyloenchondrodysplasia, short stature, SLE, intracranial calcification, spasticity, chilblains, autoimmune haemolytic anaemia; Spondyloenchondrodysplasia with immune dysregulation