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  2. Osteogenesis imperfecta
  3. ACP5
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Osteogenesis imperfecta

Gene: ACP5

No list
ACP5 (acid phosphatase 5, tartrate resistant)
EnsemblGeneIds (GRCh38): ENSG00000102575
EnsemblGeneIds (GRCh37): ENSG00000102575
OMIM: 171640, Gene2Phenotype
ACP5 is in 9 panels

3 reviews

Raymond Dalgleish (University of Leicester)

Red List (low evidence)

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Red List (low evidence)

Remove from panel
Created: 27 Nov 2015, 3:04 p.m.
Created: 27 Nov 2015, 3:04 p.m.

Panel version: 0

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Red List (low evidence)

There is no evidence to support a causal role of this gene in this particular disease
Created: 6 Oct 2015, 10:50 a.m.

Phenotypes
spondyloenchondrodysplasia with immune dysregulation and some neurological involvement

Publications

Created: 6 Oct 2015, 10:50 a.m.

Panel version: 0

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: ACP5.

12 May 2016, Gel status: 0

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been removed from the panel.

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

This gene has been classified as Red List (Low Evidence).

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ACP5 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory