Corneal abnormalities
Gene: CHRDL1

CHRDL1 (chordin like 1)
EnsemblGeneIds (GRCh38): ENSG00000101938
EnsemblGeneIds (GRCh37): ENSG00000101938
OMIM: 300350, Gene2Phenotype
CHRDL1 is in 5 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Expert review green, and more than 3 families reported for different variants.
Created: 20 Feb 2017, 5:24 p.m.

Created: 20 Feb 2017, 5:24 p.m.

Panel version: 0.62

Chris Campbell (NHS)

Green List (high evidence)

No reported incidence of megalocornea in carrier females
Created: 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

25093588

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

Created: 7 Feb 2017, 5:35 p.m.

Panel version: 0.3

Details

Mode of Inheritance

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

Sources

Expert Review Green
GDL Corneal Abnormalities panel
Radboud University Medical Center, Nijmegen

Phenotypes

Megalocornea 1, X-linked 309300
X-linked megalocornea but can also cause lens subluxation or dislocation

OMIM

300350

Clinvar variants

Variants in CHRDL1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

9 Mar 2017, Gel status: 4

panel promoted to version 1

Chris Campbell (GEL)

09/03/2017 Revised and approved to Version 1.0 after expert and internal review.

20 Feb 2017, Gel status: 4