Leukodystrophy - paediatric
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
Bryony Thompson (Royal Melbourne Hospital)
It is not clear that leukodytrophy is a prominent feature of the condition.Created: 19 Jan 2020, 2:44 a.m. | Last Modified: 19 Jan 2020, 2:44 a.m.
Panel Version: 0.29
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Royal Melbourne Hospital
- Expert Review Red
- Phenotypes
-
- Lowe syndrome, 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
30 Dec 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: OCRL was added gene: OCRL was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital 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 Lowe syndrome, 309000