Genomics England

GLA

galactosidase alpha

Panel	Mode of inheritance	Details
Filter panels11 panels
Green in Adult onset leukodystrophy R-numbers: R62 Signed-off version 5.0	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Fabry disease, Fabry disease, cardiac variant, 301500
Green in Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 6.0	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
Green in Cystic kidney disease Component of the following Super Panels: - Cystic renal disease Signed-off version 6.0	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, 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
Green in Fetal anomalies R-numbers: R21, R412 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
Green in Hypertrophic cardiomyopathy 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 4.13	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)
Green in Likely inborn error of metabolism 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 6.0	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Fabry disease, cardiac variant, 301500, Fabry Disease, Fabry disease (Sphingolipidoses), Fabry disease, 301500
Green in Lysosomal storage disorder 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
Green in Progressive cardiac conduction disease 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 2.8	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
Green in Proteinuric renal disease R-numbers: R195 Signed-off version 4.13	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
Green in Unexplained young onset end-stage renal disease R-numbers: R257 Signed-off version 5.0	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, renal insufficiency, renal failure