Genomics England
GMS Panels
Panels
Genes and Entities

ACP5

acid phosphatase 5, tartrate resistant
OMIM: 171640
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION 607944
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondyloenchondrodysplasia with immune dysregulation Type 1 interferonopathies, Spondyloenchondrodysplasia with immune dysregulation, 607944, Type 1 interferonopathies, Short stature, SP, ICC, SLE, thrombocytopenia and autoimmune hemolytic anemia, possibly recurrent bacterial and viral infections, Autoinflammatory Disorders
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondyloenchondrodysplasia with immune dysregulation 607944
Green
in White matter disorders and cerebral calcification - narrow panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondyloenchondrodysplasia, short stature, SLE, intracranial calcification, spasticity, chilblains, autoimmune haemolytic anaemia, Spondyloenchondrodysplasia with immune dysregulation