Bilateral congenital or childhood onset cataracts
Gene: CYP51A1
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
Variants in this GENE are reported as part of current diagnostic practice
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.
Publications for gene: CYP51A1 were set to 22935719; 25148791
Tag gene-checked tag was added to gene: CYP51A1.
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).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
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).
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
This gene has been classified as Amber List (Moderate Evidence).
Model of inheritance for gene CYP51A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene CYP51A1 were set to Autosomal recessive cataract due to abnormal sterol metabolism
CYP51A1 was created by ellenmcdonagh
CYP51A1 was added to Cataractspanel. Sources: Expert list