Childhood onset hereditary spastic paraplegia
Gene: CYP27A1
Generally adult onset but cannot rule out childhood onset.Created: 9 May 2019, 10:53 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:54 p.m.
3> unrelated cases with phenotypic overlap of spasticity wit with Cerebrotendinous xanthomatosis -In sheffields HSP panelCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebrotendinous xanthomatosis, 213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness
Neurologic dysfunction typically occurrs in adulthood - but early treatment with CDCA appears to prevent clinical manifestationsCreated: 25 Feb 2019, 11:33 a.m.
Comment on list classification: Updated rating from Amber to Green following review on the Hereditary spastic paraplegia panel.Created: 14 Jan 2019, 9:37 a.m.
Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel.Created: 8 Jan 2019, 1:42 p.m.
Source Yorkshire and North East GLH was added to CYP27A1.
Source NHS GMS was added to CYP27A1.
Source London North GLH was added to CYP27A1.
Added phenotypes Cerebrotendinous xanthomatosis, 213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness for gene: CYP27A1 Publications for gene CYP27A1 were changed from 25862734; 26874936; 28623566; 27455001; 29321515 to 25862734; 27455001; 26874936; 29321515; 28623566 Rating Changed from Green List (high evidence) to Green List (high evidence)
Rebecca Foulger: Comment on list classification
Gene: cyp27a1 has been classified as Green List (High Evidence).
Gene: cyp27a1 has been classified as Amber List (Moderate Evidence).
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
Publications for gene: CYP27A1 were set to 25862734
gene: CYP27A1 was added gene: CYP27A1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,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