Genomics England

OCRL

OCRL, inositol polyphosphate-5-phosphatase

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 5.4	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 4.15	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes DENT DISEASE TYPE 2 300555, LOWE OCULOCEREBRORENAL SYNDROME 309000
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Dent disease 2, OMIM:300555, Lowe syndrome, OMIM:309000
Green in Hypophosphataemia or rickets R-numbers: R154 Signed-off version 3.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Lowe syndrome, 309000
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Lowe syndrome, 309000Dent disease 2, 300555, LOWE OCULOCEREBRORENAL SYNDROME (OCRL)
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 6.14	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Dent disease 2, OMIM:300555, Lowe syndrome, OMIM:309000
Green in Nephrocalcinosis or nephrolithiasis Component of the following Super Panels: - Unexplained young onset end-stage renal disease R-numbers: R256 Signed-off version 4.16	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 disease Component of the following Super Panels: - Unexplained young onset end-stage renal disease R-numbers: R195 Signed-off version 4.15	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 disease R-numbers: R36 Signed-off version 4.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Lowe syndrome, OMIM:309000