GLA

galactosidase alpha
OMIM: 300644
PanelMode of inheritanceDetails
11 panels
R-numbers: R62
Signed-off version 3.23
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Fabry disease, Fabry disease, cardiac variant, 301500
R-numbers: R58
Signed-off version 4.41
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Fabry disease, OMIM:301500
Component of the following Super Panels:
  • - Cystic renal disease
Signed-off version 4.19
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Fabry disease, OMIM:301500, Fabry disease, MONDO:0010526, Renal cyst, HP:0000107, renal parapelvic cysts
Green
in Fabry disease
R-numbers: R335
Signed-off version 1.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
R-numbers: R21, R412
Signed-off version 3.122
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Fabry disease, 301500
Component of the following Super Panels:
  • - Sudden unexplained death or survivors of a cardiac event
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R131
Signed-off version 4.7
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Fabry disease (301500), syndromic HCM, Fabry disease, cardiac variant (301500)
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 4.78
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Fabry disease, cardiac variant, 301500, Fabry Disease, Fabry disease (Sphingolipidoses), Fabry disease, 301500
R-numbers: R276
Signed-off version 3.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Fabry disease OMIM:301500, Fabry disease MONDO:0010526
Component of the following Super Panels:
  • - Sudden unexplained death or survivors of a cardiac event
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R328
Signed-off version 2.5
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Fabry disease, cardiac variant, OMIM:301500
R-numbers: R195
Signed-off version 4.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Fabry disease 301500
R-numbers: R257
Signed-off version 3.11
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Fabry disease, 301500, renal insufficiency, renal failure