Cataract
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
EnsemblGeneIds (GRCh38): ENSG00000001630
EnsemblGeneIds (GRCh37): ENSG00000001630
OMIM: 601637, Gene2Phenotype
CYP51A1 is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Two families and one proband reported. A family with congenital cataract and a homozygous missense variant. A family with congenital cataract, neonatal fulminant hepatic failure and global developmental delay, with a homozygous missense variant. A proband with bilateral congenital cataract, cryptogenic neonatal liver cirrhosis, and spastic diplegia with biallelic variants and significantly elevated lanosterol and mildly elevated 7-dehydrocholesterol levels were identified in the patient. Also, expression in the mouse lens and in mouse with lens defects was investigated.Created: 16 Sep 2021, 6:40 a.m. | Last Modified: 16 Sep 2021, 6:40 a.m.
Panel Version: 0.287
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital cataract; infantile liver disease
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Congenital cataract
- infantile liver disease
- OMIM
- 601637
- Clinvar variants
- Variants in CYP51A1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
16 Sep 2021, Gel status: 3
Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)Phenotypes for gene: CYP51A1 were changed from to Congenital cataract; infantile liver disease
16 Sep 2021, Gel status: 3
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: CYP51A1 were set to
16 Sep 2021, Gel status: 3
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: cyp51a1 has been classified as Green List (High Evidence).
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CYP51A1 was added gene: CYP51A1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CYP51A1 was set to Unknown