Intracerebral calcification disorders
Gene: ACP5Comment 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.
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
19th Dec 2016: panel revised according to expert review and internal curation review.
This gene has been classified as Green List (High Evidence).
Publications for ACP5 were set to 21217755;21217752;26951490
This gene has been classified as Green List (High Evidence).
Phenotypes for ACP5 were set to Spondyloenchondrodysplasia with immune dysregulation;Spondyloenchondrodysplasia, short stature, SLE, intracranial calcification, spasticity, chilblains, autoimmune haemolytic anaemia
Publications for ACP5 were set to 21217755, 21217752
ACP5 was added to Intracerebral calcification disorderspanel. Source: Radboud University Medical Center, Nijmegen
ACP5 was created by ellenmcdonagh
ACP5 was added to Intracerebral calcification disorderspanel. Sources: Expert list