CRELD1

cysteine rich with EGF like domains 1
OMIM: 607170, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Red CRELD1 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.418	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Atrioventricular septal defect, susceptibility to, 2 Atrioventricular septal defect, partial, with heterotaxy syndrome MIM#606217
Red CRELD1 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.54	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Atrioventricular septal defect, partial, with heterotaxy syndrome 606217
Amber CRELD1 in Heterotaxy Level 2: Dysmorphic and congenital abnormality syndromes Version 1.32	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Atrioventricular septal defect, partial, with heterotaxy syndrome 606217
Green CRELD1 in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Jeffries-Lakhani neurodevelopmental syndrome, MIM# 620771 Atrioventricular septal defect, partial, with heterotaxy syndrome, MIM# 606217
Green CRELD1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Jeffries-Lakhani neurodevelopmental syndrome, MIM# 620771
Green CRELD1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Jeffries-Lakhani neurodevelopmental syndrome, MIM# 620771
Red CRELD1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	Not set	Sources Expert Review Amber Emory Genetics Laboratory Victorian Clinical Genetics Services
Red CRELD1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene Phenotypes Cardiac atrioventricular septal defect
Amber CRELD1 in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genomics England PanelApp Expert list Phenotypes Atrioventricular septal defect, partial, with heterotaxy syndrome 606217
Red CRELD1 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiac atrioventricular septal defect