Inherited white matter disorders
Gene: OCRL

OCRL (OCRL, inositol polyphosphate-5-phosphatase)
EnsemblGeneIds (GRCh38): ENSG00000122126
EnsemblGeneIds (GRCh37): ENSG00000122126
OMIM: 300535, Gene2Phenotype
OCRL is in 19 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene is awaiting curator evaluation and rating.
Created: 19 Dec 2018, 1:03 p.m.

Created: 19 Dec 2018, 1:03 p.m.

Panel version: 1.39

Zornitza Stark (Australian Genomics)

Green List (high evidence)

White matter abnormalities are a recognised feature of Lowe syndrome.
Created: 24 Jul 2018, 5:23 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Lowe syndrome, MIM#309000

Variants in this GENE are reported as part of current diagnostic practice

Created: 24 Jul 2018, 5:23 a.m.

Panel version: 1.19

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Red

Phenotypes

Lowe syndrome, MIM#309000

OMIM

300535

Clinvar variants

Variants in OCRL

Penetrance

None

Panels with this gene

History Filter Activity

19 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ocrl has been classified as Red List (Low Evidence).

24 Jul 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

OCRL was added to Inherited white matter disorders panel. Sources: Expert list

24 Jul 2018, Gel status: 0

Created