Genomics England
GMS Panels
Panels
Genes and Entities

COASY

Coenzyme A synthase
OMIM: 609855
PanelMode of inheritanceDetails
7 panels
Green
in Adult onset neurodegenerative disorder
R-numbers: R58
Signed-off version 4.34
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COASY protein-associated neurodegeneration, Neurodegeneration with brain iron accumulation 6, OMIM:615643
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 3.0
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 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 12, 618266, Neurodegeneration with brain iron accumulation 6, 615643
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration with brain iron accumulation 6, 615643
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia, type 12 OMIM:618266