Corneal abnormalities
Gene: CHRDL1Comment on list classification: Expert review green, and more than 3 families reported for different variants.Created: 20 Feb 2017, 5:24 p.m.
No reported incidence of megalocornea in carrier femalesCreated: 7 Feb 2017, 5:35 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
X-linked megalocornea but can also cause lens subluxation or dislocation
Publications
Variants in this GENE are reported as part of current diagnostic practice
09/03/2017 Revised and approved to Version 1.0 after expert and internal review.
This gene has been classified as Green List (High Evidence).
Phenotypes for CHRDL1 were set to Megalocornea 1, X-linked 309300;X-linked megalocornea but can also cause lens subluxation or dislocation
Mode of inheritance for CHRDL1 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
This gene has been classified as Green List (High Evidence).
Publications for CHRDL1 were set to 22284829; 25093588;25712132
Publications for CHRDL1 were set to 22284829;25093588
CHRDL1 was added to Corneal abnormalitiespanel. Source: GDL Corneal Abnormalities panel
CHRDL1 was added to Corneal abnormalitiespanel. Sources: Radboud University Medical Center, Nijmegen