Structural eye disease
Gene: CBS
homocystinuria associated with ectopia lentis, Shih 5 unrelated cases with Ectopia Lentis, other cases published sinceCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Homocystinuria, B6-responsive and nonresponsive types (includes ectopia lentis); 236200
Publications
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). homocystinuria associated with ectopia lentis, Shih 5 unrelated cases with Ectopia Lentis, other cases published sinceCreated: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Homocystinuria, B6-responsive and nonresponsive types (includes ectopia lentis); 236200
Publications
Variants in this GENE are reported as part of current diagnostic practice
gene: CBS was added gene: CBS was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CBS were set to 24169224; 11774777; 21626167; 7611293 Phenotypes for gene: CBS were set to Homocystinuria, B6-responsive and nonresponsive types (includes ectopia lentis), 236200