Cataracts

Gene: CYP51A1

Green List (high evidence)

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

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Autosomal recessive cataract due to abnormal sterol metabolism
OMIM
601637
Clinvar variants
Variants in CYP51A1
Penetrance
Complete
Publications
  • 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).
Panels with this gene

History Filter Activity

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

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 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: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for 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

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).

29 Apr 2016, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CYP51A1 was set to BIALLELIC, autosomal or pseudoautosomal

29 Apr 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene CYP51A1 were set to Autosomal recessive cataract due to abnormal sterol metabolism

29 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CYP51A1 was added to Cataractspanel. Sources: Expert list

29 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CYP51A1 was created by ellenmcdonagh