CHRDL1

chordin like 1
OMIM: 300350, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green CHRDL1 in Corneal abnormalities

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.14

review 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
Red CHRDL1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.178
Latest signed off version: v6.0 (30 Apr 2025)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MEGALOCORNEA, X-LINKED
Green CHRDL1 in DDG2P


Version 6.441
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MEGALOCORNEA, X-LINKED 309300
    Red CHRDL1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.336
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Megalocornea 1, X-linked 309300
    Green CHRDL1 in Structural eye disease


    Level 2: Ophthalmology
    Version 4.40
    Latest signed off version: v4.0 (7 Aug 2024)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Megalocornea 1, X-linked, 309300