Intracerebral calcification disorders
Gene: CYP2U1Comment on list classification: Expert review; can present with calcification.Created: 19 Dec 2016, 4:52 p.m.
Comment on list classification: Expert review green. It is a green gene on the Intellectual disability gene panel (version 1.14), Hereditary ataxia gene panel (version 1.34) and Hereditary spastic paraplegia gene panel (version 1.1). Basal ganglia calcifications are a rare feature of Spastic paraplegia 56, autosomal recessive. In PMID: 23176821 three subjects with CYP2U1 mutations presented with a thin corpus callosum, white-matter abnormalities, and/or calcification of the basal ganglia.Created: 29 Nov 2016, 1:05 p.m.
Apparently rare but definite cause of intracranial calcification.Created: 11 Feb 2016, 7:26 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia
Publications
19th Dec 2016: panel revised according to expert review and internal curation review.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Red List (Low Evidence).
CYP2U1 was added to Intracerebral calcification disorderspanel. Sources: Expert list
CYP2U1 was created by ellenmcdonagh