Haematuria_Alport
Gene: OCRL
OCRL (OCRL, inositol polyphosphate-5-phosphatase)
EnsemblGeneIds (GRCh38): ENSG00000122126
EnsemblGeneIds (GRCh37): ENSG00000122126
OMIM: 300535, Gene2Phenotype
OCRL is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000122126
EnsemblGeneIds (GRCh37): ENSG00000122126
OMIM: 300535, Gene2Phenotype
OCRL is in 18 panels
1 review
Chirag Patel (Genetic Health Queensland)
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- 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
14 Jan 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ocrl has been classified as Red List (Low Evidence).
3 Jan 2020, Gel status: 1
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: ocrl has been classified as Red List (Low Evidence).
3 Jan 2020, Gel status: 1
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: ocrl has been classified as Red List (Low Evidence).
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: OCRL was added gene: OCRL was added to Alport syndrome extended_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: OCRL was set to Unknown