Activity
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18 actions
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| Hereditary spastic paraplegia v1.183 | CYP27A1 | Rebecca Foulger Classified gene: CYP27A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.183 | CYP27A1 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green after clinical advice from Helen Brittain, who agrees that it seems appropriate to include in terms of phenotypic overlap. Sufficient unrelatd cases (>3) to support diagnostic rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.183 | CYP27A1 | Rebecca Foulger Gene: cyp27a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.159 | CYP27A1 | Rebecca Foulger Publications for gene: CYP27A1 were set to 25862734; 26874936; 28623566; 27455001; 29321515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.158 | CYP27A1 | Rebecca Foulger Phenotypes for gene: CYP27A1 were changed from progressive lower extremity spasticity,often disproportionate to any degree of weakness to Cerebrotendinous xanthomatosis, 213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.157 | CYP27A1 | Rebecca Foulger Classified gene: CYP27A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.157 | CYP27A1 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber awaiting further clinical review. CYP27A1 was added to panel and rated Amber by Chris Buxton (Bristol NHS). Multiple cases from literature of spastic paresis presenting with Cerebrotendinous xanthomatosis (CTX), which is caused by variants in CYP27A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.157 | CYP27A1 | Rebecca Foulger Gene: cyp27a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.156 | CYP27A1 | Rebecca Foulger Publications for gene: CYP27A1 were set to 25862734 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.155 | CYP27A1 | Rebecca Foulger commented on gene: CYP27A1: PMID:29321515 (Sekijima et al, 2018) conducted a Japanese survey on Cerebrotendinous xanthomatosis (CTX). The most common initial symptom was tendon xanthoma, followed next by spastic paraplegia, cognitive dysfunction, cataract, ataxia, and epilepsy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.155 | CYP27A1 | Rebecca Foulger commented on gene: CYP27A1: PMID:27455001 (Zhang et al 2017) report a 27 year old male with mental retardation and subsequently memory lapses, ataxia, spastic paraplegia and fuzzy language. The patient was found to have a compound het variant in CYP27A1. The article is in Chinese, preventing further reading. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.155 | CYP27A1 | Rebecca Foulger commented on gene: CYP27A1: PMID:28623566 (Chen et al 2017) investigated clinical symptoms of Chinese CTX patients. Three novel variants of p.Arg513Cys, c.1477-2A>C in family 1 and p.Arg188Stop in family 4 (NM 000784.3) in CYP27A1 were found. The probands in the study manifested cerebellar ataxia, tendon xanthoma and spastic paresis in family 1 and 4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.155 | CYP27A1 | Rebecca Foulger commented on gene: CYP27A1: PMID:26874936 (Rasafio et al 2016) report 2 Italian siblings from a consanguineous family with Cerebrotendinous xanthomatosis and different phenotypes but the same G-to-A transition causing splicing alteration. The 41 year old male presented with mutacism, spastic tetraparesis, bilateral pes cavus, sialorrhea, progressive dysphagia and head dystonia. Genetic testing of other family members revealed the same variant in a sister who had mild spastic paraparesis amongst her symptoms, and a status of asymptomatic carriers of heterozygous mutation in two sisters. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.155 | CYP27A1 | Rebecca Foulger commented on gene: CYP27A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.132 | CYP27A1 | Sarah Leigh Classified gene: CYP27A1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.132 | CYP27A1 | Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.132 | CYP27A1 | Sarah Leigh Gene: cyp27a1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.71 | CYP27A1 |
Chris Buxton gene: CYP27A1 was added gene: CYP27A1 was added to Hereditary spastic paraplegia. Sources: Literature Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP27A1 were set to 25862734 Phenotypes for gene: CYP27A1 were set to progressive lower extremity spasticity,often disproportionate to any degree of weakness Penetrance for gene: CYP27A1 were set to unknown Review for gene: CYP27A1 was set to AMBER Added comment: Nicholls (2015, 25862734) Cerebrotendinous xanthomatosis AR disorder of bile acid metabolism can mimic more common conditions such as hereditary spastic paraparesis, or MS particularly if the phenotype is spinal xanthomatosis where the disease causes a spastic paraplegia Associated with rased cholestanol. paper describes homozygous, previously reported CYP27A1 variant, c.1183C>T, p.Arg395Trp (R395W) Diagnostic on Sheffield HSP panel Sources: Literature |
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