Genomics England
GMS Panels
Panels
Genes and Entities

COASY

Coenzyme A synthase
OMIM: 609855
PanelMode of inheritanceDetails
8 panels
Green
in Adult onset neurodegenerative disorder
R-numbers: R58
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COASY protein-associated neurodegeneration, Neurodegeneration with brain iron accumulation 6, OMIM:615643
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration with brain iron accumulation 6, OMIM:615643, Pontocerebellar hypoplasia, type 12, OMIM:618266, arthrogryposis, MONDO:0008779
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 6.0
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 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 12, 618266, Neurodegeneration with brain iron accumulation 6, 615643
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration with brain iron accumulation 6, OMIM:615643, neurodegeneration with brain iron accumulation 6, MONDO:0014290, Pontocerebellar hypoplasia, type 12, OMIM:618266, pontocerebellar hypoplasia, type 12, MONDO:0032643
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia, type 12, OMIM:618266, pontocerebellar hypoplasia, type 12, MONDO:0032643