OCRL

OCRL, inositol polyphosphate-5-phosphatase
OMIM: 300535
PanelMode of inheritanceDetails
9 panels
Green
in Cataracts
R-numbers: R31
Signed-off version 2.76
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 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
DENT DISEASE TYPE 2 300555, LOWE OCULOCEREBRORENAL SYNDROME 309000
R-numbers: R21
Signed-off version 1.92
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
DENT DISEASE TYPE 2, LOWE OCULOCEREBRORENAL SYNDROME
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, biallelic mutations in females
Phenotypes
Dent disease 2 300555, Lowe syndrome 309000
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
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 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Lowe syndrome, 309000, Dent disease 2, 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 2.32
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
LOWE OCULOCEREBRORENAL SYNDROME #309000, Dent disease 2 #300555
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
LOWE OCULOCEREBRORENAL SYNDROME #309000, Dent disease 2 #300555
R-numbers: R62
Signed-off version 1.25
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Lowe syndrome, OMIM:309000