Kidneyome_SuperPanel_KidGen_VCGS
Gene: OCRLEnsemblGeneIds (GRCh38): ENSG00000122126
EnsemblGeneIds (GRCh37): ENSG00000122126
OMIM: 300535, Gene2Phenotype
OCRL is in 19 panels
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Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- KidGen_Tubulopathies v38.1.0
- Victorian Clinical Genetics Services
- Expert Review Green
- Expert list
- Phenotypes
-
- Dent disease 2, MIM#300555
- Lowe syndrome, MIM#309000
- OMIM
- 300535
- Clinvar variants
- Variants in OCRL
- Penetrance
- None
- Panels with this gene
-
- Hypophosphataemia or rickets
- Structural eye disease
- Fetal anomalies
- Nephrocalcinosis or nephrolithiasis
- CAKUT
- Likely inborn error of metabolism
- Renal tubulopathies
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Adult onset leukodystrophy
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Unexplained kidney failure in young people
- DDG2P
- Rare multisystem ciliopathy disorders
- Proteinuric renal disease
- Bilateral congenital or childhood onset cataracts
- White matter disorders and cerebral calcification - narrow panel
- Glaucoma (developmental)
History Filter Activity
Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)Mode of inheritance for gene OCRL was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Dent disease 2, MIM#300555; Lowe syndrome, MIM#309000 for gene: OCRL
Added New Source
Ivone Leong (Genomics England Curator)Source KidGen_Tubulopathies v38.1.0 was added to OCRL.
Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)Source Victorian Clinical Genetics Services was added to OCRL. Mode of inheritance for gene OCRL was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to Unknown
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: OCRL was added gene: OCRL was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OCRL were set to Dent disease 2, MIM#300555; Lowe syndrome, MIM#309000