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Immunological disorders_SuperPanel_PanelAppAustralia

Gene: ACP5

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

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • SLE, thrombocytopenia and autoimmune haemolytic anaemia
  • Spondyloenchondrodysplasia with immune dysregulation, MIM#607944
  • Possibly recurrent bacterial and viral infections
  • Short stature
OMIM
171640
Clinvar variants
Variants in ACP5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Apr 2020, Gel status: 3

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

Rebecca Foulger (Genomics England curator)

gene: ACP5 was added gene: ACP5 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert Review Green,Expert list Mode of inheritance for gene: ACP5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACP5 were set to 21217755; 26346816; 26951490; 26789720 Phenotypes for gene: ACP5 were set to SLE, thrombocytopenia and autoimmune haemolytic anaemia; Spondyloenchondrodysplasia with immune dysregulation, MIM#607944; Possibly recurrent bacterial and viral infections; Short stature