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  2. Structural eye disease
  3. CYP51A1
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Structural eye disease

Gene: CYP51A1

Red List (low 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

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

RH
Created: 19 Jun 2019, 3:32 p.m.
Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). RH
Created: 17 Apr 2019, 3:31 p.m.

Phenotypes
Corneal dystrophy, congenital stromal, 610048

Created: 17 Apr 2019, 3:31 p.m.

Panel version: 0.49

Details

Sources
  • NHS GMS
OMIM
601637
Clinvar variants
Variants in CYP51A1
Penetrance
None
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: CYP51A1 was added gene: CYP51A1 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: CYP51A1 was set to