CBS

cystathionine-beta-synthase
OMIM: 613381
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CYSTATHIONINE BETA-SYNTHASE DEFICIENCY 236200
R-numbers: R101
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Homocystinuria, B6-responsive and nonresponsive types, 236200, Homocystinuria Due To Cystathionine Beta‚ÄźSynthase Deficiency, Homocystinuria, Thrombosis, hyperhomocysteinemic
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Homocystinuria, B6-responsive and nonresponsive types
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Homocystinuria, B6-responsive and nonresponsive types, 236200, Thrombosis, hyperhomocysteinemic, 236200, CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (CBSD)
R-numbers: R36
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Homocystinuria, B6-responsive and nonresponsive types (includes ectopia lentis), 236200
R-numbers: R125
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Marfan syndrome, Homocystinuria, B6-responsive and nonresponsive types, 236200