Panel | Mode of inheritance | Details |
---|---|---|
11 panels | ||
Green in Adult onset leukodystrophyR-numbers: R62 Signed-off version 3.23 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Lowe syndrome, OMIM:309000 |
R-numbers: R31 Signed-off version 4.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Lowe syndrome, OMIM:309000, Confirmed DD gene for LOWE OCULOCEREBRORENAL SYNDROME |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes DENT DISEASE TYPE 2 300555, LOWE OCULOCEREBRORENAL SYNDROME 309000 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Dent disease 2, OMIM:300555, Lowe syndrome, OMIM:309000 |
Green in Hypophosphataemia or ricketsR-numbers: R154 Signed-off version 3.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Lowe syndrome, 309000 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Lowe syndrome, 309000Dent disease 2, 300555, LOWE OCULOCEREBRORENAL SYNDROME (OCRL) |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Dent disease 2, OMIM:300555, Lowe syndrome, OMIM:309000 |
Green in Nephrocalcinosis or nephrolithiasisR-numbers: R256 Signed-off version 4.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Lowe syndrome, OMIM:309000, Dent disease 2, OMIM:300555, As for CLCN5 (Nephrocalcinosis with low molecular weight proteinuria and pregressive CKD) but may include intellectual disability and other features of Lowe syndrome |
Green in Proteinuric renal diseaseR-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 Lowe syndrome, OMIM:309000, Dent disease 2, OMIM:300555 |
Green in Structural eye diseaseR-numbers: R36 Signed-off version 3.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Lowe syndrome, OMIM:309000 |
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 Lowe syndrome, OMIM:309000, Dent disease 2, OMIM:300555 |