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  2. Corneal Dystrophy
  3. CHRDL1
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Corneal Dystrophy

Gene: CHRDL1

Green List (high evidence)
CHRDL1 (chordin like 1)
EnsemblGeneIds (GRCh38): ENSG00000101938
EnsemblGeneIds (GRCh37): ENSG00000101938
OMIM: 300350, Gene2Phenotype
CHRDL1 is in 3 panels

1 review

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Comment when marking as ready: Multiple large families reported with X-linked inheritance.
Created: 22 Mar 2021, 12:49 a.m. | Last Modified: 22 Mar 2021, 12:49 a.m.
Panel Version: 1.1
Sources: Literature
Created: 22 Mar 2021, 12:48 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Megalocornea OMIM# 309300

Publications

Created: 22 Mar 2021, 12:48 a.m.

Panel version: 1.1

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Megalocornea OMIM# 309300
OMIM
300350
Clinvar variants
Variants in CHRDL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: chrdl1 has been classified as Green List (High Evidence).

22 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: chrdl1 has been classified as Green List (High Evidence).

22 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: chrdl1 has been classified as Green List (High Evidence).

22 Mar 2021, Gel status: 1

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: chrdl1 has been classified as Red List (Low Evidence).

22 Mar 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

gene: CHRDL1 was added gene: CHRDL1 was added to Corneal Dystrophy. Sources: Literature Mode of inheritance for gene: CHRDL1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: CHRDL1 were set to 25093588 Phenotypes for gene: CHRDL1 were set to Megalocornea OMIM# 309300 Review for gene: CHRDL1 was set to GREEN