COASY

Coenzyme A synthase
OMIM: 609855
PanelMode of inheritanceDetails
6 panels
R-numbers: R57
Signed-off version 1.137
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration with brain iron accumulation 6 615643, COASY protein-associated neurodegeneration
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION
R-numbers: R54
Signed-off version 2.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 12, 618266, Neurodegeneration with brain iron accumulation 6, 615643
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
Neurodegeneration with brain iron accumulation 6, 615643
R-numbers: R58
Signed-off version 2.178
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COASY protein-associated neurodegeneration, Neurodegeneration with brain iron accumulation 6, OMIM:615643