Cataracts
Gene: OCRL
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Variants in this GENE are reported as part of current diagnostic practice
Is on the Manchester congenital cataracts gene panel. Is a confirmed DD gene for LOWE OCULOCEREBRORENAL SYNDROME, and in OMIM there are more than 3 unrelated cases associated with Lowe syndrome.Created: 29 Apr 2016, 12:51 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Lowe syndrome; Confirmed DD gene for LOWE OCULOCEREBRORENAL SYNDROME
Mode of inheritance for OCRL was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
This gene has been classified as Green List (High Evidence).
Mode of inheritance for OCRL was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for OCRL were set to Lowe syndrome; Confirmed DD gene for LOWE OCULOCEREBRORENAL SYNDROME
Mode of inheritance for OCRL was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
This gene has been classified as Green List (High Evidence).
OCRL was added to Cataractspanel. Sources: UKGTN