Adult onset hereditary spastic paraplegia
Gene: CYP2U1
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 14 Mar 2022, 1:19 p.m. | Last Modified: 14 Mar 2022, 1:19 p.m.
Panel Version: 1.95
The Q2_21_expert_review tag has been added to this gene as there is a conflict of opinion of the rating of CYP2U1 on the Hereditary spastic paraplegia - adult onset panel, as variants in CYP2U1 are usually associated with Spastic paraplegia 56, autosomal recessive OMIM:615030 in childhood. The green rating may be justified to ensure that edge cases may be identified.
GMS opinion is sort on this issue.Created: 27 Apr 2021, 2:22 p.m. | Last Modified: 27 Apr 2021, 2:25 p.m.
Panel Version: 1.17
Childhood onset.Created: 20 Sep 2020, 8:16 a.m. | Last Modified: 20 Sep 2020, 8:16 a.m.
Panel Version: 1.7
Childhood onset till age 8. Multiple families reported.Created: 9 May 2019, 11:03 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.Created: 21 May 2019, 4:14 p.m.
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:50 p.m.
Victoria: may have a subclinical axonal neuropathy. MRI: white matter abnormality, thin corpus callosum. Several unrelated families published. In Sheffields HSP panelCreated: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 56, autosomal recessive, 615030
Tag Q2_21_expert_review was removed from gene: CYP2U1.
Source Expert Review Amber was added to CYP2U1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Tag Q2_21_expert_review tag was added to gene: CYP2U1.
Phenotypes for gene: CYP2U1 were changed from Spastic paraplegia 56, autosomal recessive, 615030 to Spastic paraplegia 56, autosomal recessive OMIM:615030; hereditary spastic paraplegia 56 MONDO:0014015
Publications for gene: CYP2U1 were set to
Source Yorkshire and North East GLH was added to CYP2U1.
Source Expert Review Green was added to CYP2U1. Mode of inheritance for gene CYP2U1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 56, autosomal recessive, 615030 for gene: CYP2U1 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to CYP2U1.
gene: CYP2U1 was added gene: CYP2U1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: CYP2U1 was set to