Bilateral congenital or childhood onset cataracts
Gene: CYP51A1

CYP51A1 (cytochrome P450 family 51 subfamily A member 1)
EnsemblGeneIds (GRCh38): ENSG00000001630
EnsemblGeneIds (GRCh37): ENSG00000001630
OMIM: 601637, Gene2Phenotype
CYP51A1 is in 2 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Homozygous and compound het missense mutations in 2 patients with AR paediatric cataracts, biochemical confirmation in Gillespie et al;
Created: 25 May 2016, 8:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Autosomal recessive cataract due to abnormal sterol metabolism

Publications

Aldahmesh (2012) Genet Med 14(12):955-962
Gillespie et al (2014) Ophthlamol 121:2124-2137

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

Created: 25 May 2016, 8:10 a.m.

Panel version: 0.124

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

Comment on list classification: Promoted to green due to expert review, and currently used as a diagnostic gene at Manchester.
Created: 31 May 2016, 9:22 a.m.

Gene and associated phenotype added from the Manchester congenital cataracts gene panel. This gene is not associated with a disease in Gene2Phenotype or OMIM. Mode of inheritance assigned from the phenotype provided (autosomal recessive).
Created: 29 Apr 2016, 3:08 p.m.

Created: 29 Apr 2016, 3:07 p.m.

Panel version: 0.7

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list

Phenotypes

Autosomal recessive cataract due to abnormal sterol metabolism

Tags

gene-checked

OMIM

601637

Clinvar variants

Variants in CYP51A1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

3 May 2022, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CYP51A1 were set to 22935719; 25148791

3 May 2022, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag gene-checked tag was added to gene: CYP51A1.

3 May 2022, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CYP51A1 were set to Aldahmesh (2012) Genet Med 14(12):955-962 - novel missense variant was reported to segregate with a cataract phenotype in a Saudi Arabian family. Gillespie et al (2014) Ophthlamol 121:2124-2137 (article not available for full text access).

31 May 2016, Gel status: 4