Hereditary spastic paraplegia - childhood onset

Gene: CYP27A1

Green List (high evidence)

CYP27A1 (cytochrome P450 family 27 subfamily A member 1)
EnsemblGeneIds (GRCh38): ENSG00000135929
EnsemblGeneIds (GRCh37): ENSG00000135929
OMIM: 606530, Gene2Phenotype
CYP27A1 is in 29 panels

5 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

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

Louise Daugherty (Genomics England Curator)

I don't know

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.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

3> unrelated cases with phenotypic overlap of spasticity wit with Cerebrotendinous xanthomatosis -In sheffields HSP panel
Created: 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

Arianna Tucci (Genomics England Curator)

Neurologic dysfunction typically occurrs in adulthood - but early treatment with CDCA appears to prevent clinical manifestations
Created: 25 Feb 2019, 11:33 a.m.

Rebecca Foulger (Genomics England curator)

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.

History Filter Activity

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to CYP27A1.

28 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CYP27A1.

28 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to CYP27A1.

3 Apr 2019, Gel status: 3

Set Phenotypes, Set publications, Status Update

Louise Daugherty (Genomics England Curator)

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)

28 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Comment on list classification

14 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: cyp27a1 has been classified as Green List (High Evidence).

8 Jan 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: cyp27a1 has been classified as Amber List (Moderate Evidence).

8 Jan 2019, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

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

8 Jan 2019, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: CYP27A1 were set to 25862734

19 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sarah Leigh (Genomics England Curator)

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