Corneal abnormalities

Gene: CHRDL1

Green List (high evidence)

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.

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

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

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

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Feb 2017, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CHRDL1 were set to Megalocornea 1, X-linked 309300;X-linked megalocornea but can also cause lens subluxation or dislocation

20 Feb 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for CHRDL1 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

20 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Feb 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for CHRDL1 were set to 22284829; 25093588;25712132

20 Feb 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for CHRDL1 were set to 22284829;25093588

19 Jan 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CHRDL1 was added to Corneal abnormalitiespanel. Source: GDL Corneal Abnormalities panel

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CHRDL1 was added to Corneal abnormalitiespanel. Sources: Radboud University Medical Center, Nijmegen