Bilateral congenital or childhood onset cataracts
Gene: CBSComment on list classification: Cataracts not part of this phenotype.Created: 7 Jun 2016, 12:36 p.m.
Many reports of mutations associated with ocular disorders, espsecially ectopia lentis, in CBS patientsCreated: 25 May 2016, 8:10 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Homocystinuria, AR
Publications
Variants in this GENE are reported as part of current diagnostic practice
Is on the Manchester congenital cataracts gene panel, and is a confirmed DD gene for Cystathione Beta-synthase deficiency.Created: 29 Apr 2016, 9:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Homocystinuria B6-responsive and nonresponsive types; confirmed DD gene for CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Publications for CBS were set to Many on HGMD
Phenotypes for CBS were set to Homocystinuria, AR; Homocystinuria B6-responsive and nonresponsive types; confirmed DD gene for CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
Mode of inheritance for CBS was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
CBS was added to Cataractspanel. Sources: UKGTN