Intracerebral calcification disorders
Gene: ACP5EnsemblGeneIds (GRCh38): ENSG00000102575
EnsemblGeneIds (GRCh37): ENSG00000102575
OMIM: 171640, Gene2Phenotype
ACP5 is in 9 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Expert review green. It is a confirmed DD gene for Spondyloenchondrodysplasia with immune dysregulation, which includes CNS calcifications. More than 3 families reported in the publications provided.Created: 29 Nov 2016, 11:35 a.m.
Yanick Crow (University of Manchester)
Diagnosis sometimes prompted on the basis of the finding of intracranial calcification on CT.Created: 11 Feb 2016, 7:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondyloenchondrodysplasia, short stature, SLE, intracranial calcification, spasticity, chilblains, autoimmune haemolytic anaemia
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Spondyloenchondrodysplasia with immune dysregulation
- Spondyloenchondrodysplasia, short stature, SLE, intracranial calcification, spasticity, chilblains, autoimmune haemolytic anaemia
- OMIM
- 171640
- Clinvar variants
- Variants in ACP5
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)19th Dec 2016: panel revised according to expert review and internal curation review.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ACP5 were set to 21217755;21217752;26951490
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ACP5 were set to Spondyloenchondrodysplasia with immune dysregulation;Spondyloenchondrodysplasia, short stature, SLE, intracranial calcification, spasticity, chilblains, autoimmune haemolytic anaemia
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ACP5 were set to 21217755, 21217752
Added New Source
Olivia Niblock (Genomics England Curator)ACP5 was added to Intracerebral calcification disorderspanel. Source: Radboud University Medical Center, Nijmegen
Created
Ellen McDonagh (Genomics England Curator)ACP5 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)ACP5 was added to Intracerebral calcification disorderspanel. Sources: Expert list