Genomics England
GMS Panels
Panels
Genes and Entities

CHRDL1

chordin like 1
OMIM: 300350
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MEGALOCORNEA, X-LINKED 309300
Green
in Structural eye disease
R-numbers: R36
Signed-off version 4.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Megalocornea 1, X-linked, 309300