OCRL

OCRL, inositol polyphosphate-5-phosphatase
OMIM: 300535
PanelMode of inheritanceDetails
11 panels
Green
in Cataracts
R-numbers: R31
Signed-off version 3.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Lowe syndrome, OMIM:309000, Confirmed DD gene for LOWE OCULOCEREBRORENAL SYNDROME
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
DENT DISEASE TYPE 2 300555, LOWE OCULOCEREBRORENAL SYNDROME 309000
R-numbers: R21, R412
Signed-off version 2.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Dent disease 2, OMIM:300555, Lowe syndrome, OMIM:309000
R-numbers: R154
Signed-off version 3.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Lowe syndrome, 309000
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Dent disease 2, OMIM:300555, Lowe syndrome, OMIM:309000
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Lowe syndrome, 309000Dent disease 2, 300555, LOWE OCULOCEREBRORENAL SYNDROME (OCRL)
R-numbers: R256
Signed-off version 3.1
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
R-numbers: R195
Signed-off version 3.1
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
R-numbers: R36
Signed-off version 2.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Lowe syndrome, OMIM:309000
R-numbers: R257
Signed-off version 2.1
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
R-numbers: R62
Signed-off version 2.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Lowe syndrome, OMIM:309000