Paediatric disorders - additional genes
Gene: CRELD1

CRELD1 (cysteine rich with EGF like domains 1)
EnsemblGeneIds (GRCh38): ENSG00000163703
EnsemblGeneIds (GRCh37): ENSG00000163703
OMIM: 607170, Gene2Phenotype
CRELD1 is in 11 panels

1 review

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

This gene was submitted by Rebecca Whittington on behalf of the South West GLH, for inclusion on the Paediatric disorders panel (https://panelapp.genomicsengland.co.uk/panels/486/) This gene is currently Red or Amber on panels in PanelApp.
Created: 26 Nov 2019, 2:38 p.m. | Last Modified: 26 Nov 2019, 2:38 p.m.

Panel Version: 0.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Atrioventricular septal defect, partial, with heterotaxy syndrome; Atrioventricular septal defect, susceptibility to, 2

Created: 26 Nov 2019, 2:38 p.m.
Last Modified: 26 Nov 2019, 2:38 p.m.
Panel version: 0.35

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

South West GLH

Phenotypes

Atrioventricular septal defect, partial, with heterotaxy syndrome
Atrioventricular septal defect, susceptibility to, 2

OMIM

607170

Clinvar variants

Variants in CRELD1

Penetrance

None

Panels with this gene

History Filter Activity

26 Nov 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: CRELD1 was added gene: CRELD1 was added to Paediatric disorders - additional genes. Sources: South West GLH Mode of inheritance for gene: CRELD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CRELD1 were set to Atrioventricular septal defect, partial, with heterotaxy syndrome; Atrioventricular septal defect, susceptibility to, 2

Paediatric disorders - additional genes Gene: CRELD1