GLA

galactosidase alpha
OMIM: 300644
PanelMode of inheritanceDetails
7 panels
R-numbers: R21
Signed-off version 1.92
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 cardiac death
R-numbers: R131
Signed-off version 2.11
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), syndromic HCM, Fabry disease, cardiac variant (301500)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
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 1.2
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 cardiac death
R-numbers: R328
Signed-off version 1.5
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, 301500
R-numbers: R257
Signed-off version 1.2
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
R-numbers: R62
Signed-off version 1.25
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Fabry disease, Fabry disease, cardiac variant, 301500