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Cataracts

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

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Phenotypes
Cerebrotendinous xanthomatosis

Publications

  • Gallus et al (2010) Eur J Neurol 17:1259-1262
  • Garuti et al (1997) J Lipid Res 38:2322-2334

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

I don't know

Comment on list classification: Promoted to green due to expert review and evidence provided.
Created: 31 May 2016, 9:03 a.m.
Is on the Manchester congenital cataracts gene panel. Associated with Cerebrotendinous xanthomatosis in OMIM, which includes Juvenile cataracts as a phenotype. Only case reported on OMIM.
Created: 29 Apr 2016, 10:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

9 Jan 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CYP27A1 were changed from Cerebrotendinous xanthomatosis to Cerebrotendinous xanthomatosis, 213700

31 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

31 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for CYP27A1 was changed to BIALLELIC, autosomal or pseudoautosomal

31 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

31 May 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for CYP27A1 were set to Gallus et al (2010) Eur J Neurol 17:1259-1262; Garuti et al (1997) J Lipid Res 38:2322-2334

25 May 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CYP27A1 were set to Cerebrotendinous xanthomatosis

13 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CYP27A1 was added to Cataractspanel. Sources: UKGTN