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Prepair 1000+

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 22 panels

2 reviews

Lilian Downie (Victorian Clinical Genetics Services)

Comment when marking as ready: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid-storage disease characterized clinically by progressive neurologic dysfunction (cerebellar ataxia beginning after puberty, systemic spinal cord involvement and a pseudobulbar phase leading to death), premature atherosclerosis, and cataracts. Large deposits of cholesterol and cholestanol are found in virtually every tissue, particularly the Achilles tendons, brain, and lungs. Cholestanol, the 5-alpha-dihydro derivative of cholesterol, is enriched relative to cholesterol in all tissues. The diagnosis can be made by demonstrating cholestanol in abnormal amounts in the serum and tendon of persons suspected of being affected. Plasma cholesterol concentrations are low normal in CTX patients. (OMIM)
Created: 4 Oct 2024, 10:33 p.m. | Last Modified: 4 Oct 2024, 10:33 p.m.
Panel Version: 1.369
Created: 4 Oct 2024, 10:33 p.m.
Last Modified: 4 Oct 2024, 10:33 p.m.
Panel version: 1.369

Cassandra Muller (Victorian Clinical Genetics Services)

Green List (high evidence)

Variable age of onset, can be early childhood. Well-established gene-disease association.
Created: 25 Sep 2024, 4:12 a.m. | Last Modified: 25 Sep 2024, 4:12 a.m.
Panel Version: 1.322

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebrotendinous xanthomatosis, 213700 (3)

Created: 25 Sep 2024, 4:12 a.m.
Last Modified: 25 Sep 2024, 4:12 a.m.
Panel version: 1.322

History Filter Activity

4 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

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

4 Oct 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: CYP27A1 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Cerebrotendinous xanthomatosis, 213700 (3) for gene: CYP27A1

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CYP27A1 was added gene: CYP27A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis, 213700 (3)