Adult onset hereditary spastic paraplegia

Gene: CYP2U1

I don't know

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

Red List (low evidence)

Childhood onset.

Created: 20 Sep 2020, 8:16 a.m. | Last Modified: 20 Sep 2020, 8:16 a.m.

Panel Version: 1.7

I don't know

Childhood onset till age 8. Multiple families reported.

Created: 9 May 2019, 11:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 23176821
• 24337409

Variants in this GENE are reported as part of current diagnostic practice

I don't know

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.

Green List (high evidence)

Victoria: may have a subclinical axonal neuropathy. MRI: white matter abnormality, thin corpus callosum. Several unrelated families published. In Sheffields HSP panel

Created: 25 Apr 2019, 1:22 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 56, autosomal recessive, 615030