Ataxia and cerebellar anomalies - narrow panel
Gene: CYP2U1
The rating of this gene has been updated to red following NHS Genomic Medicine Service approval.Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
Updating tags to be Q3_22_expert_review and Q3_22_rating so that gene is included in the next GMS report (Oct 2022)Created: 5 Oct 2022, 11:19 p.m. | Last Modified: 5 Oct 2022, 11:19 p.m.
Panel Version: 2.306
Comment on phenotypes: Autosomal recessive spastic paraplegia 56 (#615030) is a complex form of disorder, ataxia not yet identified in affected patients (Table 1 in PMID: 27292318 provides a review of cases reported so far).Created: 14 Apr 2021, 10:54 a.m. | Last Modified: 27 Apr 2021, 10:11 a.m.
Panel Version: 2.134
Ataxia is not a prominent feature of this condition as far as I can ascertain.Created: 12 Sep 2020, 3:07 a.m. | Last Modified: 12 Sep 2020, 3:07 a.m.
Panel Version: 2.12
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 56, autosomal recessive, MIM#615030
Tag Q3_22_rating was removed from gene: CYP2U1. Tag Q3_22_expert_review was removed from gene: CYP2U1.
Source Expert Review Red was added to CYP2U1. Source NHS GMS was added to CYP2U1. Rating Changed from Green List (high evidence) to Red List (low evidence)
Tag Q2_21_expert_review was removed from gene: CYP2U1. Tag Q3_22_rating tag was added to gene: CYP2U1. Tag Q3_22_expert_review tag was added to gene: CYP2U1.
Tag Q2_21_expert_review tag was added to gene: CYP2U1.
Phenotypes for gene: CYP2U1 were changed from Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients. to Spastic paraplegia 56, autosomal recessive OMIM:615030; hereditary spastic paraplegia 56 MONDO:0014015
Publications for gene: CYP2U1 were set to
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
gene: CYP2U1 was added gene: CYP2U1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP2U1 were set to Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients.