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| Ataxia and cerebellar anomalies - narrow panel v3.30 | CYP2U1 |
Eleanor Williams Tag Q3_22_rating was removed from gene: CYP2U1. Tag Q3_22_expert_review was removed from gene: CYP2U1. |
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| Ataxia and cerebellar anomalies - narrow panel v3.30 | CYP2U1 | Eleanor Williams edited their review of gene: CYP2U1: Added comment: The rating of this gene has been updated to red following NHS Genomic Medicine Service approval.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.29 | CYP2U1 |
Eleanor Williams 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) |
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| Ataxia and cerebellar anomalies - narrow panel v2.306 | CYP2U1 | Eleanor Williams commented on gene: CYP2U1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.306 | CYP2U1 |
Eleanor Williams 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. |
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| Ataxia and cerebellar anomalies - narrow panel v2.134 | CYP2U1 | Sarah Leigh changed review comment from: Comment on phenotypes: Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients.; to: 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). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.134 | CYP2U1 | Sarah Leigh Tag Q2_21_expert_review tag was added to gene: CYP2U1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.91 | CYP2U1 | Sarah Leigh Added comment: Comment on phenotypes: Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.91 | CYP2U1 | Sarah Leigh 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.90 | CYP2U1 | Sarah Leigh Publications for gene: CYP2U1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.12 | CYP2U1 | Zornitza Stark reviewed gene: CYP2U1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 56, autosomal recessive, MIM#615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v0.5 | CYP2U1 |
Ellen McDonagh 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. |
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