Genomics England
GMS Panels
Panels
Genes and Entities

CRELD1

cysteine rich with EGF like domains 1
OMIM: 607170
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
HETEROTAXY SYNDROME 207574
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 7.0
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Atrioventricular septal defect, partial, with heterotaxy syndrome, OMIM:606217, {Atrioventricular septal defect, susceptibility to, 2}, OMIM:606217, atrioventricular septal defect, susceptibility to, 2, MONDO:0011650