Panel | Mode of inheritance | Details |
---|---|---|
11 panels | ||
Green in Adult onset leukodystrophyR-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 |
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 diseaseComponent of the following Super Panels:
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 diseaseR-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 anomaliesR-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 cardiomyopathyComponent of the following Super Panels:
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 metabolismComponent of the following Super Panels:
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 disorderR-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:
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 diseaseR-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 |
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 |