CRELD1

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

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Red CRELD1 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.430	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 1.62	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 1.36	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 1.2374	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 1.119 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 1.83	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 0.305	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 Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.260	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Jeffries-Lakhani neurodevelopmental syndrome, MIM# 620771
Amber CRELD1 in Fetal anomalies Version 1.314	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 1.116	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiac atrioventricular septal defect