Genomics England

OCRL

OCRL, inositol polyphosphate-5-phosphatase

Panel	Mode of inheritance	Details
Filter panels11 panels
Green in Adult onset leukodystrophy R-numbers: R62 Signed-off version 3.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Lowe syndrome, OMIM:309000
Green in Bilateral congenital or childhood onset cataracts 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 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
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	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 - microarray and sequencing Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.0	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 - targeted testing not possible 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 4.0	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 R-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 disease R-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 disease R-numbers: R36 Signed-off version 3.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Lowe syndrome, OMIM:309000
Green in Unexplained young onset end-stage renal disease R-numbers: R257 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 Lowe syndrome, OMIM:309000, Dent disease 2, OMIM:300555