Proteinuria
Gene: OCRLEnsemblGeneIds (GRCh38): ENSG00000122126
EnsemblGeneIds (GRCh37): ENSG00000122126
OMIM: 300535, Gene2Phenotype
OCRL is in 18 panels
2 reviews
Eleanor Williams (Genomics England)
Genotype/Phenotype information:
PMID: 33517444 - Ramadesikan et al 2021 - studied the cellular effect of 7 OCRL1 (OCRL) variants identified in Lowe Syndrome patients in kidney epithelial cells. Differences in cell spreading, ciliogenesis, protein localization and degree of Golgi apparatus fragmentation were observed. The results help provide a framework to explains symptom heterogeneity and may help stratify patients.Created: 4 May 2021, 4:55 p.m. | Last Modified: 4 May 2021, 4:55 p.m.
Panel Version: 0.7488
Phenotypes
Lowe syndrome, OMIM:309000
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Low molecular weight proteinuria is a feature of these conditions.
Sources: Expert listCreated: 20 Dec 2019, 1:32 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Dent disease 2, MIM#300555; Lowe syndrome, MIM#309000
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- 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
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Calcium and Phosphate disorders
- Glaucoma congenital
- Prepair 1000+
- Proteinuria
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Haematuria_Alport
- Anophthalmia_Microphthalmia_Coloboma
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Cataract
- Renal Tubulopathies and related disorders
- Prepair 500+
- Autism
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ocrl has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ocrl has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: OCRL was added gene: OCRL was added to Proteinuria_VCGS_KidGen. Sources: Expert list 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 Review for gene: OCRL was set to GREEN