Genomics England
GMS Panels
Panels
Genes and Entities

CTSA

cathepsin A
OMIM: 613111
PanelMode of inheritanceDetails
8 panels
Green
in Adult onset leukodystrophy
R-numbers: R62
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galactosialidosis, 256540
Green
in Adult onset neurodegenerative disorder
R-numbers: R58
Signed-off version 4.34
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cathepsin A-related arteriopathy-strokes-leukoencephalopathy, MONDO:0035551
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GALACTOSIALIDOSIS 256540
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GALACTOSIALIDOSIS
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
Galactosialidosis, 256540, GALACTOSIALIDOSIS (GSL)
Green
in Likely inborn error of metabolism - targeted testing not possible
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galactosialidosis
Green
in Lysosomal storage disorder
R-numbers: R276
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galactosialidosis OMIM:256540, galactosialidosis MONDO:0009737
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galactosialidosis 256540