Isomerism and laterality disorders

Gene: CRELD1

Amber List (moderate evidence)

CRELD1 (cysteine rich with EGF like domains 1)
EnsemblGeneIds (GRCh38): ENSG00000163703
EnsemblGeneIds (GRCh37): ENSG00000163703
OMIM: 607170, Gene2Phenotype
CRELD1 is in 9 panels

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Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Atrioventricular septal defect, partial, with heterotaxy syndrome, 2, 606217
  • Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217
  • Visceral Heterotaxy Atrioventricular Septal Defect, Susceptibility To, 2
OMIM
607170
Clinvar variants
Variants in CRELD1
Penetrance
Complete
Panels with this gene

History Filter Activity

16 May 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

CRELD1 was added to Isomerism and laterality disorderspanel. Source: UKGTN

16 May 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CRELD1 was added to Isomerism and laterality disorderspanel. Source: Literature

16 May 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CRELD1 was added to Isomerism and laterality disorderspanel. Sources: Radboud University Medical Center, Nijmegen

16 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CRELD1 was created by ellenmcdonagh