1. Panels
  2. DDG2P
  3. CYP27A1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

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 28 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease Cerebrotendinous xanthomatosis, OMIM:213700 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively (PMIDs: 2019602;16278884).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebrotendinous xanthomatosis, OMIM:213700

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 3.12

Rebecca Foulger (Genomics England curator)

New gene:disorder association added to DDG2P on 06/09/2019: Cerebrotendinous xanthomatosis. Disease confidence rating in DDG2P: child IF. DDG2P mutation consequence: loss of function. DDG2P mode of inheritance: biallelic.
Created: 16 Sep 2019, 8:39 a.m. | Last Modified: 16 Sep 2019, 8:39 a.m.
Panel Version: 1.81
Created: 16 Sep 2019, 8:39 a.m.
Last Modified: 16 Sep 2019, 8:39 a.m.
Panel version: 1.81

History Filter Activity

4 Oct 2023, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to CYP27A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

16 Sep 2019, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: CYP27A1 was added gene: CYP27A1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP27A1 were set to 2019602; 16278884 Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis